Genetics Exam 1

A woman whose hemoglobin S levels are less than 1% has a brother with sickle cell disease, and both parents have been diagnosed as carrier for the disorder. She asks what her risks are of having a child with sickle cell disease. What is the best response? A. "Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status." B. "Because both your parents have the trait, it is possible for you to have a child with sickle cell disease if your partner actually has the disease." C. "Because your brother actually has sickle cell disease, the risk for your children having sickle cell disease is 50% with each pregnancy." D. "Because you are a woman, your daughters will each have a 50% risk for having the disease, and all of your sons will be carriers of the trait."

A. "Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status."

An obese patient (body mass index of 35) states, "There is no point in changing how I eat because it is all genetics anyways." What is the best response? A. "Even with a large genetic component, obesity can be reduced through a sensible diet and exercise." B. "Let's gather some more family history about body height, weight, and eating patterns." C. "You are right; you can't change your genes. There is no point in dieting." D. "With you genetics, your best bet would be a low-carb Atkins-type diet."

A. "Even with a large genetic component, obesity can be reduced through a sensible diet and exercise."

Your 40-year-old patient is hospitalized for a myocardial infarction, but her lipid levels are normal. She says that she would like to have a genetic test to see why she was affected at such a young age. What do you say? A. "Heart attacks seem to be caused by a combination of many affected genes working together as well as environmental factors. There is no single gene test that will be able to identify why this happened to you." B. "Let's talk with your nurse practitioner about scheduling a test for familial hypercholesterolemia." C. "You really shouldn't be concerned about your genetic risk. Because you are female, it is very low." D. "It was just bad luck combined with the fact that you were once a smoker."

A. "Heart attacks seem to be caused by a combination of many affected genes working together as well as environmental factors. There is no single gene test that will be able to identify why this happened to you."

A man with syndactyly, an autosomal dominant condition, has one child who also has syndactyly. His unaffected wife states "Because the risk for having a child with this problem is 50% and our first child has the problem. the next child will not be affected." What is the best response to this statement? A. "That is not quite true because the risk is 50% with each pregnancy, so with all future children, you would have a 50% risk." B. "That is not quite true because you could also have the mutation, but not show the problem if there is variable expressivity." C. "That is correct, but if you have more than tow children, half of them will have syndactyly, and 50% will not have it." D. "That is correct, and if only have two children, the second one will not have syndactyly."

A. "That is not quite true because the risk is 50% with each pregnancy, so with all future children, you would have a 50% risk."

What factors increase the clinical severity of alpha-1 antitrypsin (ATT) deficiency? 1. Whether or not the person smokes 2. Whether or not the person uses alcohol 3. The severity of disease in affected relatives 4. The specific alleles of the genes inherited A. 1 and 4 B. 2 and 3 C. 2 and 4 D. 4 only

A. 1 and 4

What is the best definition of the term compound heterozygous? A. A person who has two different mutated alleles for an autosomal-recessive disorder B. A person whose expression of an autosomal-recessive disorder is modified by silencing of one allele C. A person who expresses a genetic disorder having different mutations on two nonhomologous chromosomes D. A person having a complex disorder in which there is unequal influence of genetic and environmental contributions

A. A person who has two different mutated alleles for an autosomal-recessive disorder

Which condition in a newborn should be described as a deformation if it is the only abnormal finding? A. A unilateral clubfoot B. A sealed (imperforate) anus C. The absence of a thyroid gland D. The presence of six toes on each foot

A. A unilateral clubfoot

Which observations in a pedigree indicate a probably autosomal-dominant (AD) trait transmission? A. Affected males and females appear in every generation B. The pedigree shows only one affected individual C. The trait appears to "skip" generations D. Only males are affected

A. Affected males and females appear in every generation

What mechanism results in the malformation of cleft lip? A. An abnormal developmental process B. An abnormal organization of cells C. A mechanical process D. The breakdown of an originally normal developmental process

A. An abnormal developmental process

Why are complex or multifactorial disorders more commonly expressed among adults than among children? A. As adults age, there is more time for environmental factors to influence the expression of a genetic disorder B. Gene expression in adults is greater than in childhood as a result of age-related amplification of gene copy numbers C. Children have better DNA repair mechanisms than adults and are more likely to correct a predisposition for a complex disorder D. In order for a complex or multifactorial disorder to be expressed in childhood, the child must be homozygous for the genetic mutation

A. As adults age, there is more time for environmental factors to influence the expression of a genetic disorder

Couples from which ethnic group would derive the greatest benefit from genetic testing for Tay-Sachs disease? A. Ashkenazi Jews B. Asian Americans C. French Canadians from Quebec D. Individuals of Mediterranean descent

A. Ashkenazi Jews

Which ethnic group has the highest incidence of Gaucher disease? A. Ashkenazi Jews B. Asian Americans C. American Indians D. Individuals of Mediterranean descent

A. Ashkenazi Jews

What is the most important action to take when assessing an infant for possible dysmorphic features? A. Assess the phenotypes of first-degree relatives B. Count the number of minor anomalies present C. Use an atlas that includes globally diverse populations D. Determine whether an identified dysmorphic feature is a malformation or a deformation

A. Assess the phenotypes of first-degree relatives

Which statement regarding autoimmune disease is true? A. Autoimmune disorders and diseases are more common among females than among males B. Autoimmune disorders and diseases are more common among males than among females C. The main characteristics of an autoimmune disorder are a reduced inflammatory response and increased susceptibility to infection D. The main characteristics of an autoimmune disorder are an increased inflammatory response and decreased susceptibility to infection

A. Autoimmune disorders and diseases are more common among females than among males

Which statement regarding the biology of cancer is always true? A. Cancer cells arise from normal cells B. Testicular cancer is strongly associated with excessive masturbation C. When cancer cells are exposed to air, their growth rate becomes uncontrolled D. The biggest risk factor for cancer development is having a first-degree relative with cancer

A. Cancer cells arise from normal cells

Which characteristic(s) is/are associated with an inherited predisposition for a cancer type? A. Cancers tend to appear at an earlier age than do "sporadic" cancers B. These cancers are not picked up by routine cancer screening methods C. The carcinogenesis stage of "promotion" is not required for cancer development D. They are passed on only to the children of the same gender as the parent with the predisposition

A. Cancers tend to appear at an earlier age than do "sporadic" cancers

Which theory of carcinogenesis has the most support? A. DNA damage, which permits over-expression of oncogenes B. RNA damage, which results in incomplete protein formation C. Autoantibodies, which attack specific "self" tissues and organs D. The failure of embryonic tissues to undergo normal differentiation

A. DNA damage, which permits over-expression of oncogenes

Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease? A. Enlarged, palpable liver B. Weight in the 95th percentile C. Does not yet say "mama" or "dada" D. Skin tone appears slightly lighter than that of either parent

A. Enlarged, palpable liver

Why is it important to diagnose Gaucher type 1 disease as soon as possible after birth? A. Enzyme therapy can reduce complications for some patients B. When proper dietary management is instituted early, complications can be prevented C. Insulin therapy can result in prevention of the development of type 2 diabetes mellitus D. Prophylactic therapy with antibiotics can prevent early death from pneumonia and other infections

A. Enzyme therapy can reduce complications for some patients

What term is used to describe the gene-to-gene interaction in which the action of one gene modifies the expression of a different gene? A. Epistasis B. Heterogeneity C. Genomic imprinting D. Epigenetic penetrance

A. Epistasis

Which demographic information could have an important influence on susceptibility to disorders that have a strong genetic component? A. Ethnicity B. Education C. Profession D. Nutrition status

A. Ethnicity

Which factor is consistent with mutlifactorial (complex) genetic disease? A. Expression of the trait often involves mutations in several genes B. Monozygotic (identical) twin concordance is 100% C. Genotype consistently predicts phenotype D. It tends to be autosomal dominant

A. Expression of the trait often involves mutations in several genes

Which lysosomal storage disease is associated with an increased risk for stroke? A. Fabry disease B. Gaucher disease C. Hurler syndrome D. Tay-Sachs disease

A. Fabry disease

Which term is used to describe the condition of widely spaced eyes? A. Hypertelorism B. Hypotelorism C.Hyperoculoci D. Hypo-oculoci

A. Hypertelorism

Which statement regarding type 1 von Willebrand disease (VWD) is true? A. Incomplete penetrance is common B. It represents the female form of hemophilia C. Carriers can transmit the disease to their children D. Males are affected twice as frequently as females

A. Incomplete penetrance is common

Which factor has the greatest genetic influence in the development of type 1 diabetes mellitus? A. Inheritance of the HLA-DR or HLA-DQ tissue types B. Sedentary lifestyle coupled with childhood obesity C. Mutation in the gene for pancreas development D. Advanced maternal age at conception

A. Inheritance of the HLA-DR or HLA-DQ tissue types

Which problem or symptom is associated with type 1 diabetes but not with type 2 diabetes? A. Insulitis B. Polydipsia C. Weight gain D. Hyperglycemia

A. Insulitis

What is the significance of the presence of frontal bossing in one parent and two children within a family as the only physical or developmental abnormality? A. It is an inherited normal variation of an anatomical feature B. All three family members should be referred to a geneticist for a formal evaluation C. The family is most likely descended from Neanderthal ancestors rather than from Cro-Magnon ancestors D. This physical anatomical malformation is a type of deformation caused by prenatal compression of soft skull areas

A. It is an inherited normal variation of an anatomical feature

Which of the following benign tumors usually express aneuploidy? A. Lipomas B. Leiomyomas C. Neurofibromas D. Neuroblastomas

A. Lipomas

Which feature is considered anaplastic? A. Loss of distinctive appearance B. Having a larger nuclear-to-cytoplasmic ratio C. Failure to undergo apoptosis at the appropriate time D. The ability to undergo mitosis when nutrition is poor

A. Loss of distinctive appearance

Why does Duchenne muscular dystrophy (DMD) have poor reproductive fitness? A. Most affected individuals typically do not have children B. Fifty percent of mutations of the dystrophin gene are deletions C. The loss of functional adhesion proteins prevents reproduction D. The expression of disease severity is highly variable among adults

A. Most affected individuals typically do not have children

How is sickle cell trait different from sickle cell disease? A. People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation B. People with sickle cell trait are homologous for the mutation, whereas those with sickle cell disease are heterozygous for the mutation C. Sickle cell disease results from an inherited mutation, and sickle cell trait results from an acquired mutation D. Sickle cell trait results from an inherited mutation, and sickle cell disease results from an acquired mutation

A. People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation

Why is determining the genetic contribution to the onset of stroke difficult? A. Stroke classification and phenotype remain heterogenous B. Comorbidities mask the symptoms and delay the diagnosis C. Environmental risk factors have equal contribution to the problem D. Often the person with a stroke cannot provide accurate family information

A. Stroke classification and phenotype remain heterogenous

In the acronym "SCREEN" for formulating questions to ask that may indicate a heritable trait or health problem, what does the second "E" signify? A. The ethnicity of family members B. That the problem or trait is present in every generation of the family C. That the onset of the problem is present only among elderly family members D. That the trait or problem is equally represented by male and female family members

A. The ethnicity of family members

Why is the mitochondrial disease MELAS, which results in stroke-like episodes in addition to encephalopathy and lactic acidosis, only transmitted by a mother and not by an affected father? A. The mitochondria are in the cytoplasm, and virtually all the cytoplasm come from the egg and is thus maternally inherited B. This is an X-linked recessive condition, so the father can only transmit the gene to his daughters and not to his sons C. Mitochondria are in the cytoplasm and are not equally divided during the gamete formation in meiosis D. MELA reduces the percentage of Y-carrying sperm in affected males

A. The mitochondria are in the cytoplasm, and virtually all the cytoplasm come from the egg and is thus maternally inherited

Zoe, a 20-year-old woman, shows signs of mild muscle weakness. She has two first cousins on her mother's side who died of Duchenne's muscular dystrophy (DMD). Which explanation regarding Zoe's situation is most likely? A. Zoe is a heterozygote showing partial expression B. Zoe and her cousins shared similar environmental risks C. The muscle weakness is related to Zoe's lack of exercise in her "girly-girl" lifestyle D. Zoe is homozygous for DMD, with a defective dystrophin gene inherited from both parents

A. Zoe is a heterozygote showing partial expression

Which statement regarding general cancer development is true? A. The risk for cancer development increases with age B. Cancers usually develop in tissues that are missing a nucleus C. Children of older mothers have a greater risk for cancer development D. Most mutations leading to cancer development occur in structural genes

A. The risk for cancer development increases with age

What is the primary purpose of a pedigree? A. To identify family members' places within a kindred and describe their medical history B. To establish which person within a kindred is responsible for introducing a genetic mutation into the family C. To determine the specific risk of any one family member to develop or pass on a genetic-based health problem D. To establish which person within a kindred is responsible for bringing the family to the attention of a genetics professional

A. To identify family members' places within a kindred and describe their medical history

Which statement best describes the role of tumor suppressor genes in cancer development? A. Tumor suppressor genes control or modify the activity of oncogenes, reducing the risk for cancer development B. The presence of tumor suppressor genes increases the risk for gene damage by environmental carcinogens C. Tumor suppressor genes reduce/suppress immune function, increasing the risk for cancer development D. Tumor suppressor genes are a type of oncogene that is only active in germline cells and tissues

A. Tumor suppressor genes control or modify the activity of oncogenes, reducing the risk for cancer development

What is the genetic contribution to the development of the most common forms of atherosclerosis? A. Variation in a variety of genes, with each exerting a small effect B. Disordered mitochondrial function reducing energy production C. Genetic predisposition expressed after exposure to a viral trigger D. Single-gene mutation following autosomal-dominant inheritance

A. Variation in a variety of genes, with each exerting a small effect

The mother of a teenager recently diagnosed with osteogenesis imperfecta type 1 (OI) asks if the problem is related to the fact that she adhered to a vegetarian diet during pregnancy. What is the most appropriate response? A. Your diet is not related to this disease because it is an inherited disorder B. Although this problem can be inherited, low calcium levels are a major cause C. That is one possibility, especially because collagen requires proteins to form D. More likely, it is related to the fact that you were older than 35 years of age when you became pregnant

A. Your diet is not related to this disease because it is an inherited disorder

A patient states that she has heard that the origin of most cancers is "genetic". What is the best response? A. "The development of most cancers is predetermined and not affected by environmental factors." B. "Cancers arise in cells that have alterations in the genes." C. "Cancer is more common among males than females." D. "The majority of cancers are inherited."

B. "Cancers arise in cells that have alterations in the genes."

A 21-year-old woman who has two brothers with Duchenne muscular dystrophy asks whether carrier status testing is appropriate for her. What is the best response? A. "Testing could be beneficial because your risk for being a carrier is nearly 100%." B. "Testing could be beneficial because your risk for being a carrier is approximately 50%." C. "Testing is not necessary because you would have expressed some symptoms of the disease by this time if you were a carrier." D. "Testing is not necessary because the spontaneous mutation rate for this genetic problem is high and likely to be why your brothers have the disease."

B. "Testing could be beneficial because your risk for being a carrier is approximately 50%."

A 22-year-old college student tells his nurse practitioner in the student health center that his mother died of colon cancer at age 32. He asks if this could have an impact on his health. What is your best response? A. "Yes, you need to have yearly stool tests for occult blood." B. "Yes, it would be good for you to talk with a genetics counselor." C. "No, because colon cancer is considered a type of sporadic cancer." D. "No, your risk would only be increased if your father had the colon cancer."

B. "Yes, it would be good for you to talk with a genetics counselor."

Which feature or factor is the best predictor for delay of complications in a person who has sickle cell disease (SCD)? A. Male gender B. 20% or greater of HbF C. Having survived malaria D. Living in a geographic area that has cold winters

B. 20% or greater of HbF

What percentage of common cancers appears to be hereditary? A. 1% to 3% B. 5% to 15% C. 20% to 25% D. About 35%

B. 5% to 15%

Which anomaly constitutes clinodactyly? A. An extra toe on one foot B. A laterally curved fifth finger C. Complete absence of fingers and toes D. Fusion of two fingers on the right hand

B. A laterally curved fifth finger

How is a congenital anomaly that requires intervention or management categorized? A. A dysmorphology B. A major anomaly C. A minor anomaly D. A disruption

B. A major anomaly

What statement about atrial fibrillation is correct? A. It is the most common genetic cardiac disorder worldwide B. A variety of different genes can contribute to its expression C. It is found exclusively in adults over 60 years old D. When sever, it leads to long QT syndrome

B. A variety of different genes can contribute to its expression

What is the risk for disease expression among the offspring of a woman who has an autosomal-recessive disorder when her partner is a carrier for the same disorder? A. All sons will be unaffected; all daughters will be carriers B. All children have a 50% risk for being affected and a 50% risk for being a carrier C. Daughters have a 50% risk for being affected; all sons will either be affected or carriers D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease

B. All children have a 50% risk for being affected and a 50% risk for being a carrier

What is the best action to take when you observe the presence of a smooth philtrum on a young child? A. Obtain a genetics referral as soon as possible B. Assess for the presence of any other dysmorphic features C. Document the finding in the medical record as the only action D. Gently explain to the parents that this finding is cause for concern

B. Assess for the presence of any other dysmorphic features

Why is factor V Leiden disorder considered a form of thrombophilia? A. Platelet activity is impaired B. Blood clots form more easily C. Atherosclerosis development is accelerated D. Excessive bleeding episodes occur in response to minor trauma

B. Blood clots form more easily

Mutations in which of the following genes are now known to greatly increase the risk for developing breast cancer? Select all that apply. A. APC B. CDH1 C. CHEK2 D. DCC E. PALB2 F. PTEN

B. CDH1 C. CHEK2 E. PALB2 F. PTEN

How does an MSH2 gene mutation contribute to the development of colon cancer? A. Suppressor gene function is enhanced B. DNA mutations are incorrectly repaired C. Trinucleotide repeat sequences are enhanced D. Drug resistance genes undergo amplification

B. DNA mutations are incorrectly repaired

Which genetic disorder is associated with an increased risk for type 2 diabetes? A. Achondroplasia B. Down syndrome C. Huntington disease D. Hereditary hemochromatosis

B. Down syndrome

What is true about the gene variants that cause hypertension? A. A few genes with major contributions have been identified B. Genes that code for proteins in the RAAS pathways are often involved C. Hypertension is always secondary to another genetic disease D. Polymorphisms have little or no impact on the hypertensive phenotype

B. Genes that code for proteins in the RAAS pathways are often involved

Your patient's family comes from Ireland. Both her parents are carriers of gene mutations causing hereditary hemochromatosis (HFE-HHC). What is your patient's risk of having the clinical signs of this disorder? A. HHC is an autosomal-recessive condition; the risk is 25% B. HHC has incomplete penetrance; we cannot accurately predict the clinical risk C. HHC is a complex trait; we cannot accurately predict the clinical risk D. HHC is an autosomal-dominant trait; the risk is 50%

B. HHC has incomplete penetrance; we cannot accurately predict the clinical risk

Which type of testing is most commonly used to diagnose sickle cell disease? A. Hematocrit and hemoglobin levels B. Hemoglobin and electrophoresis C. Genetic mutation analysis D. Sweat chloride analysis

B. Hemoglobin and electrophoresis

For which disorder is the drug idursulfase (Elaprase) appropriate for enzyme-replacement therapy? A. Hurler syndrome B. Hunter syndrome C. Gaucher type 2 D. Tay-Sachs disease

B. Hunter syndrome

Which health problem is the most frequent cause of sudden cardiac death among young athletes? A. Atrial fibrillation B. Hypertrophic cardiomyopathy C. Familial hypercholesterolemia type 1 D. Roman-Ward form of long QT syndrome

B. Hypertrophic cardiomyopathy

What is the pathologic basis of Fabry disease? A. Increased degradation of globotriaosylceramide B. Increased accumulation of globotriaosylceramide C. Deficiency in the number of liver lysosomes D. Excessive number of liver lysosomes

B. Increased accumulation of globotriaosylceramide

Which health problems could be expected as a result of gene mutation that affects the correct production and function of type 1 collagen? A. Failure of blood to clot after minor trauma B. Increased incidence of arterial and venous aneurysms C. Increased incidence of hearing and loss among children and adults D. Restrictive lung disease from excessive stiffening of alveolar walls

B. Increased incidence of arterial and venous aneurysms

By which process does "initiation" assist in cancer development? A. Enhancing the cell division of cells damaged by a carcinogen B. Inflicting mutations at specific sites on the exposed cell's DNA C. Increasing the transformed cell's capacity for error-free DNA repair D. Making cancer cells appear more normal and escaping immunosurveillance

B. Inflicting mutations at specific sites on the exposed cell's DNA

Your patient has been diagnosed with long QT syndrome (LQTS). What do you know about this heart rhythm problem? A. LQTS is a congenital genetic disease that will be evident during the first 2 years of life B. It is relatively rare and often cause by private mutation C. LQTS is treated in the same way, no matter the cause D. Deafness always accompanies LQTS

B. It is relatively rare and often cause by private mutation

What is the result of a mutation occurring in a suppressor gene? A. Gain of a new function B. Loss of an existing function C. Increased "error-prone" DNA repair D. Increased unequal "crossing over" during meiosis I

B. Loss of an existing function

Which relative of a patient who has cystic fibrosis has the correct risk for being a cystic fibrosis carrier? A. Sister 0% B. Mother 50% C. Father 100% D. Brother 100%

B. Mother 50%

Which manifestation in a teenage boy whose mother is a carrier for Fabry disease suggests the boy may have the disorder? A. Hearing is hyperacute B. Opacity is present in both eyes C. Fasting blood glucose level is elevated D. Growth spurt results in a height 6 inches taller than his siblings

B. Opacity is present in both eyes

How are Punnett squares and pedigrees different? A. Pedigrees represent genotypes, and Punnett squares represent phenotypes B. Punnett squares represent genotypes, and pedigrees represent phenotypes C. Pedigrees can identify actual carriers fo genetic mutations, whereas Punnett squares only suggest carrier status D. Punnett squares can identify actual carriers of genetic mutations, whereas pedigrees only suggest carrier status

B. Punnett squares represent genotypes, and pedigrees represent phenotypes

If a man with Fabry disease has children with a woman who is a carrier for the disorder, what is the expected risk pattern? A. All sons will be unaffected; all daughters will be carriers B. Sons have a 50% risk for being affected; all daughters will either be affected or carriers C. Daughters have a 50% risk for being affected; all sons will either be affected or carriers D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease

B. Sons have a 50% risk for being affected; all daughters will either be affected or carriers

By which process does "promotion" assist in cancer development? A. Inflicting mutations at specific sites on the exposed cell's DNA B. Stimulating or enhancing cell division of cells damaged by a carcinogen C. Increasing the transformed cell's capacity fir error-free DNA repair D. Making cancer cells appear more normal and escaping immunosurveillance

B. Stimulating or enhancing cell division of cells damaged by a carcinogen

What is the best description of a drug prescribed to control acne that also causes sever birth defects when it is taken during pregnancy? A. Pleiotropic B. Teratogenic C. Carcinogenic D. Geneticomimetic

B. Teratogenic

Why does a newborn with a genetic enzyme deficiency have a normal phenotype at birth? A. Metabolism during prenatal life is too slow to require full enzyme activity B. The deficient enzyme's activity was performed by maternal enzymes before birth C. During the fetal phase of life, the newborn was not exposed to the protein that the enzyme is responsible for degrading D. Although the newborn cannot synthesize the enzyme after birth, the initially stored enzyme performs its functions until the level is fully depleted

B. The deficient enzyme's activity was performed by maternal enzymes before birth

Which condition or factor most strongly supports a genetic basis for the development of type 2 diabetes mellitus? A. Type 2 diabetes occurring in two cousins before age 30 years B. The disease developing in a person whose parents also have type 2 diabetes C. The fact that the incidence of disease concordance is higher in dizygotic twins than in monozygotic twins D. The fact that type 2 diabetes is more prevalent in one city than it is in another city of similar size

B. The disease developing in a person whose parents also have type 2 diabetes

Why should a tall teenager with Marfan syndrome avoid joining the high school basketball team? A. The excessively long limbs have reduced bone density, increasing the risk for fractures B. The disorder is associated with weakened blood vessel walls that could rupture during strenuous activity C. The disorder is associated with glycogen storage deficiency, and the individual could become seriously hypoglycemic during strenuous activity D. Although people with Marfan syndrome are tall, they also have poor balance that impairs gross motor coordination, increasing the risk for injury

B. The disorder is associated with weakened blood vessel walls that could rupture during strenuous activity

Which variable in a person with coronary artery disease (CAD) increase the likelihood of a strong genetic influence in its expression? A. The disorder is not present in the person's dizygotic twin B. The disorder is present in a woman whose father had CAD C. The affected person has eaten a vegetarian diet for the past 5 years D. The disorder is present in about 5% of the person's maternal family members

B. The disorder is present in a woman whose father had CAD

Why does a person with Hurler syndrome have an enlarged abdomen? A. The excess mucopolysaccharides accumulate inside the lysosomes within the liver cells B. The excess mucopolysaccharides accumulate inside the cells of the liver and the spleen C. The excess glycosaminoglycans weaken the muscles of the abdomen, and all contents move forward D. The excess glycosaminoglycans cause the person to develop type 2 diabetes, with greatly increased abdominal fat

B. The excess mucopolysaccharides accumulate inside the cells of the liver and the spleen

What does a double horizontal line between a circle symbol and a square symbol as the only line directly connecting two individuals signify on a pedigree? A. The individuals are parent and child B. The individuals are related by blood C. The individuals are brother and sister D. The individuals have mated without being married

B. The individuals are related by blood

What is the significance of a horizontal dashed line drawn between a male and a female? A. The two siblings are both adopted B. The individuals have a casual sexual relationship and are not married C. The individuals have a third-degree (or later) blood relationship with each other D. Neither of the two individuals is a first-or second-degree relative of the proband

B. The individuals have a casual sexual relationship and are not married

Which personal factors indicated that the possibility of a person having a BRCA1 or BRCA2 mutation? Select all that apply. A. The person has an adopted sister with ovarian cancer B. The person's brother was diagnosed with breast cancer C. The person has always been 20 lb overweight as an adult D. The patient's father died of pancreatic cancer at age 44 E. The person is of Ashkenazi Jewish ethnicity F. The person's 78-year-old grandmother was just diagnosed with breast cancer

B. The person's brother was diagnosed with breast cancer D. The patient's father died of pancreatic cancer at age 44 E. The person is of Ashkenazi Jewish ethnicity

What is the most likely explanation for the variability in expression of disease severity for cystic fibrosis? A. The ethnicity of the patient B. The specific CFTR gene mutation inherited C. The presence of other nongenetic lung or pancreatic problems D. The length of trinucleotide repeat sequences in the first exon of the CFTR gene

B. The specific CFTR gene mutation inherited

What do each of the genes involved in maturity-onset diabetes of the young (MODY) have in common? A. They are all located on the long arm of chromosome 6 B. They each play a role in the metabolism of glucose, or insulin action and release C. Although they are of different sizes, they all contain the same exon and intron sequences D. The genes that cause MODY are expressed only in the young and suppressed during adulthood

B. They each play a role in the metabolism of glucose, or insulin action and release

A 12-year-old girl was diagnosed with von Willebrand disease (VWD) when she developed profound anemia from very heavy menstrual periods. Her levels of von Willebrand (vWf) factor are normal. What specific type of von Willebrand disease is she most likely to have? A. Type 1 VWD B. Type 2 VWD C. Type 3 VWD D. Type 4 VWD

B. Type 2 VWD

Which type of diabetes has a slow onset and is often diagnosed in North American only when a complication is present? A. Type 1 diabetes mellitus B. Type 2 diabetes mellitus C. Maturity-onset diabetes of the young (MODY) D. Gestational diabetes mellitus

B. Type 2 diabetes mellitus

Why are women usually older than men before symptoms of hereditary hemochromatosis manifest? A. Women have a counterbalancing normal gene on their second X chromosome B. Women lose some iron with normal menstruation during childbearing years C. Men have a large muscle mass and more iron-storing capability than women D. Men have greater expression of the gene for hemoglobin than do women

B. Women lose some iron with normal menstruation during childbearing years

Which physical finding in a 30-year-old man suggest the possibility of familial hypercholesterolemia? A. Lipomas B. Xanothomas C. Osteoarthritis D. Hemangiomas

B. Xanothomas

Which statement regarding classic hemophilia is true? A. Females are not affected B. Because hemophilia is X-linked recessive, females are affected, and males are carriers C. Because hemophilia is X-linked recessive, males are affected, and females are carriers D. The sons of women who are older than age 40 when pregnant are at an increased risk for hemophilia

C. Because hemophilia is X-linked recessive, males are affected, and females are carriers

You are working in a clinic, and a 4-year-old child is brought in with a history of cleft palate repair. His parents say they want to have another child and ask you if their child will have the same problem. They mention the mom's uncle Bob had a cleft lip. What do you say? A. "There is a 3% to 5% risk that your next child will be affected." B. "Looking at your family history, I can tell that there is a 20% risk that your next child will be affected." C. "Let's make an appointment with a genetic counselor who will help determine your next child's risk." D. "You should have carrier testing to find out if your next child is at risk."

C. "Let's make an appointment with a genetic counselor who will help determine your next child's risk."

A 40-year-old man who has a mother who was diagnosed with breast cancer at age 45, a father who was diagnosed with smoking-related lung cancer at age 55, a 33-year-old sister with breast cancer, and a 38-year-old sister with ovarian cancer asks if he should be concerned for his cancer risk. What is the best response? A. "Your risk is not affected by this family history because most of the cancers arose in female sex-associated tissues." B. "You have two first-degree relatives and two second-degree relatives with cancer; which increases your general risk for cancer." C. "Your risk for breast cancer may be increased and requires more investigation; however, your risk for lung cancer is not affected by this history." D. "Your risk for cancer is affected by your parents' cancer development, and you should have genetic counseling on that basis; however, your sister's cancers have no bearing on your risk."

C. "Your risk for breast cancer may be increased and requires more investigation; however, your risk for lung cancer is not affected by this history."

What type of problem is Pierre-Robin, in which micrognathia begins a series of events that can result in an obstructed airway? A. A syndrome B. An association C. A sequence D. A dysplasia

C. A sequence

Which ethnic group has the highest incidence of sickle cell disease (SCD)? A. Ashkenazi Jews B. Asian Americans C. African Americans D. French Canadians from Quebec

C. African Americans

If a man with Gaucher type 1 has children with a woman who is a carrier for the disorder, what is the expected risk pattern? A. All sons will be unaffected; all daughters will be carriers B. All sons will be carriers; all daughters will be affected C. All children will either have one mutated allele and will at least be carriers; each child of either gender has a 50% risk of having the disease D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease

C. All children will either have one mutated allele and will at least be carriers; each child of either gender has a 50% risk of having the disease

What is the inheritance pattern for alpha-1 antitrypsin (ATT) deficiency? A. Autosomal dominant B. Autosomal recessive C. Autosomal codominant D. Sex-linked recessive

C. Autosomal codominant

Which statement regarding Duchenne muscular dystrophy (DMD) is true? A. Females are not affected B. Because DMD is X-linked recessive, females are affected, and males are carriers C. Because DMD is X-linked recessive, males are affected, and females are carriers D. The sons of women who are older than age 40 when pregnant are at an increased risk for DMD

C. Because DMD is X-linked recessive, males are affected, and females are carriers

How are malignant tumors different from benign tumors? A. Malignant tumors grow by expansion, and benign tumors grow by invasion B. Malignant tumors lose plasma membranes, and benign tumors continue to produce them C. Benign tumors retain parental cell function, and malignant tumors lose parental cell function D. Benign tumors have totally normal features, and malignant tumors have totally abnormal features

C. Benign tumors retain parental cell function, and malignant tumors lose parental cell function

Which statement about a "germline" mutation in either a cancer suppressor gene or an oncogene is accurate? A. Cancer risk is increased only in sex hormone-sensitive tissues B. The gene now has expressive potential but not penetrant potential C. Cancer risk increases, but additional mutations are required for cancer development D. A person inheriting such a mutation has a 100% risk for developing a specific cancer type

C. Cancer risk increases, but additional mutations are required for cancer development

Which ethnic group is at a higher risk for stroke caused by factor V Leiden? A. Ashkenazi Jews B. African Americans C. Caucasians from Northern Europe D. French Canadians from the Quebec area

C. Caucasians from Northern Europe

Which ethnic group has the highest incidence of mutation in the PAH gene? A. Ashkenazi Jews B. French Canadians from the Quebec area C. Celts from Ireland and Scotland D. Africans from equatorial areas

C. Celts from Ireland and Scotland

Which clinical manifestation in a 6-month-old infant is most diagnostic for Tay-Sachs disease? A. Anemia and bruising B. Enlarged liver and spleen C. Cherry red spot on the retina D. Progressive cognitive impairment

C. Cherry red spot on the retina

What is the most accurate classification of the common forms of coronary artery disease and hypertension? A. Secondary disorders caused by lifestyle choices B. Sequential genetic disorders related to age, ethnicity, and gender C. Complex disorders resulting from gene-environmental interactions D. Primary disorders with an autosomal-dominant pattern of inheritance

C. Complex disorders resulting from gene-environmental interactions

Which action or behavior is considered an "executive function"? A. Hopping on one foot B. Learning the names of animals C. Deciding what to give as a present D. Counting the number of objects in a picture

C. Deciding what to give as a present

Which statement regarding lysosomal storage diseases is true? A. A gene defect makes lysosomes unable to store degraded compounds B. Accumulation of stored iron results in cell, tissue, and organ dysfunction C. Defective enzymes result in the accumulation of potentially toxic substances D. Mutations in the genes coding for different types of collagen produce substances that are toxic to brain cells

C. Defective enzymes result in the accumulation of potentially toxic substances

If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern? A. All sons will be affected; all daughters will be carriers B. Daughters have a 50% risk for being affected; all sons will either be affected or carriers C. Each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease

C. Each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease

The process in which gene variants interact with other gene variants to cause disease can be described by what word/phrase? A. Phenotype variation B. Reduced penetrance C. Epistasis D. Variable expressivity

C. Epistasis

What do the known monogenic disorder that result in the expression of hypertension have in common? A. An error in the ability of vascular smooth muscle to contract B. An error in the ability of vascular smooth muscle to relax C. Excessive kidney reabsorption of sodium D. Excessive kidney reabsorption of potassium

C. Excessive kidney reabsorption of sodium

What event occurring during the latency period of carcinogenesis is most likely to contribute to cancer development? A. Cellular apoptosis B. Error-free DNA repair C. Exposure to promoters D. Oncogene inactivation

C. Exposure to promoters

How does the genetic assessment differ from routine physical assessment? A. Routine physical assessment relies on personal history, and genetic assessment relies on the recorded family history B. Genetic assessment requires only inspection, and routine physical assessment involves inspection, palpation, and auscultation C. Genetic assessment encompasses routine physical assessment and always adds the consideration of genetic causes for findings D. Routine physical assessment is performed by all health-care professionals , and genetic assessment is performed only by genetic professionals

C. Genetic assessment encompasses routine physical assessment and always adds the consideration of genetic causes for findings

Which relatively common adult-onset disorder or health problem is the result of a mutation in a single gene? A. Type 2 diabetes B. Multiple sclerosis C. Hereditary hemochromatosis D. Age-related macular degeneration

C. Hereditary hemochromatosis

Which results of genetic/genomic variation has the most support as a cause of asthma? A. Decreased resistance to infectious microorganisms B. Early childhood exposures to inhalation irritants (air pollution) C. Increased inflammatory responses to environmental triggers D. Mutations in frontal-lobe genes controlling attention-getting behavior

C. Increased inflammatory responses to environmental triggers

How are the two mucopolysaccharide disorders Hurler syndrome and Hunter syndrome different? A. Hurler syndrome is an autosomal-dominant disorder, and Hunter syndrome is autosomal recessive B. Hunter syndrome is an autosomal-dominant disorder, and Hurler syndrome is autosomal recessive C. Individuals with Hurler syndrome become cognitively impaired in early childhood, whereas those with Hunter syndrome often retain intellectual ability until later in life D. Individuals with Hunter syndrome become cognitively impaired in early childhood, whereas those with Hurler syndrome often retain intellectual ability until later in life

C. Individuals with Hurler syndrome become cognitively impaired in early childhood, whereas those with Hunter syndrome often retain intellectual ability until later in life

What is the most common cause of death among individuals with vascular Ehlers-Danlos (Ehlers-Danlos type IV)? A. Respiratory impairment from kyphosis B. Skin cancer (melanoma) C. Intestinal rupture D. Liver failure

C. Intestinal rupture

Which feature is associated exclusively with sporadic cancer? A. The cause is unknown B. It usually affects both bilateral organs C. It occurs at the same frequency within a kindred as in the general population D. It is more likely to occur in younger people with few environmental risks that in older people

C. It occurs at the same frequency within a kindred as in the general population

Which problem associated with Tangier disease increases the risk for coronary artery disease? A. Low levels of triglycerides B. High levels of triglycerides C. Low levels of high-density lipoproteins (HDLs) D. High levels lo low-density lipoproteins (LDLs)

C. Low levels of high-density lipoproteins (HDLs)

Which tissues are most commonly affected by mutation of the CFTR gene? A. Eyes and ears B. Brain and intestines C. Lungs and pancreas D. Kidneys and long bones

C. Lungs and pancreas

Which type of maturity-onset diabetes of the young (MODY) is the most common? A. MODY-1 B. MODY-2 C. MODY-3 D. MODY-4

C. MODY-3

A fasting blood glucose sample indicates that your 24-year-old male patient has hyperglycemia that was not present during a test 6 weeks ago. What is the most likely cause of this? A. Type 1 diabetes mellitus B. Type 2 diabetes mellitus C. Maturity-onset diabetes of the young (MODY) D. Gestational diabetes mellitus

C. Maturity-onset diabetes of the young (MODY)

What is the explanation for creatine kinase (CK) levels in a 14-year-old boy with Duchenne muscular dystrophy being much lower now than they were 5 years ago? A. His disease is improving B. He now performs passive rather than active exercise C. Most of the muscle tissue has already been destroyed D. The disease is probably Becker muscular dystrophy (BMD) rather than Duchenne muscular dystrophy

C. Most of the muscle tissue has already been destroyed

Which autoimmune disorder has the greatest environmental contribution? A. Stickler syndrome B. Rheumatoid arthritis C. Multiple sclerosis D. Systemic lupus erythematosus

C. Multiple sclerosis

What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time? A. The trait is recessive B. Mutation repair is incompletely penetrant C. Nongenetic factors can influence expression D. Homologous genes can undergo chromatid exchanges

C. Nongenetic factors can influence expression

Which activity would a general registered nurse be expected to perform as part of genomic care? A. Calculating recurrence risk for parents how have just had a child with nondisjunction Down syndrome B. Informing a patient that his test results are positive for a genetic disorder C. Obtaining an accurate family history and physical assessment data D. Requesting a consultation visit from a clinical geneticist

C. Obtaining an accurate family history and physical assessment data

A 12-year-old boy with Marfan syndrome complains to his nurse-practitioner, "My mother won't let me play football or do anything else. Isn't there something I can do besides sitting and playing video games?" Which of the following activities may be considered less risky for this child to perform? Select all that apply. A. Soccer (not the goalie position) B. Riding his bike with his friends C. Playing table tennis D. Competitive swimming E. Archery F. Recreational ice-skating G. Hiking low-to moderate-difficulty trails H. Basketball

C. Playing table tennis E. Archery F. Recreational ice-skating G. Hiking low-to moderate-difficulty trails

How does the drug Endari reduce the manifestations of sickle cell disease? A. Promoting faster red blood cell production B. Increasing the concentration of fetal hemoglobin (HbF) C. Reducing oxidate stress and increasing the life span of red blood cells D. Correcting the mutation of one allele so that the person has sickle cell trait instead of sickle cell disease

C. Reducing oxidate stress and increasing the life span of red blood cells

Which pair of relatives represents a first-degree relationship? A. Grandfather and grandson B. Aunt and nephew C. Sister and brother D. Two cousins

C. Sister and brother

Which statement is true regarding age-related macular degeneration (AMD)? A. It is the most common cause of peripheral vision impairment among the elderly B. It is transmitted in an autosomal-recessive pattern of inheritance C. Smoking increases the risk in those who are genetically susceptible D. Predictive genetic testing can identify the genes that cause AMD

C. Smoking increases the risk in those who are genetically susceptible

Which type of testing is most commonly used to diagnose cystic fibrosis (CF)? A. Mucus protein electrophoresis B. Genetic mutation analysis C. Sweat chloride analysis D. Stool analysis

C. Sweat chloride analysis

Which statement regarding cleft lip (CL) with or without cleft palate (CP) is correct? A. It is the rarest facial anomaly B. These features are not found in isolation C. The causes are both genetic and environmental D. CL without CP is minor anomaly, and CL with CP is major anomaly

C. The causes are both genetic and environmental

How is hemophilia A (classical hemophilia) different from hemophilia B? A. Symptoms of hemophilia B are not present at birth, but those of hemophilia A are B. In hemophilia B, the affected gene is on an autosome instead of the X chromosome C. The clotting factor problem in hemophilia B is a deficiency of factor IX rather than factor VIII D. The physiologic effect on the partial thromboplastin time is more profound with hemophilia than with hemophilia B

C. The clotting factor problem in hemophilia B is a deficiency of factor IX rather than factor VIII

A son with achondroplasia is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder? A. The son is biologically related to the mother B. The son is not biologically related to the father C. The gamete of one parent had a spontaneous mutation D. The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy

C. The gamete of one parent had a spontaneous mutation

A son with osteogenesis imperfecta is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder? A. The son is not biologically related to the mother B. The son is not biologically related to the father C. The gamete of one parent had a spontaneous mutation D. The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy

C. The gamete of one parent had a spontaneous mutation

A woman who is a carrier for Fabrys disease has children with a man who does not have the disorder. Their son has the disease, and their daughter also has some symptoms of Fabry disease even though she could only have inherited one affected allele. What is the explanation for the daughter having some symptoms of Fabry disease? A. The girl must have a different father than her brother B. The daughter is seeking the same attention that is given to her brother C. The inactivation of one X chromosome in female cells is a totally random event D. In addition to inheriting one affected allele, the daughter has developed a somatic mutation

C. The inactivation of one X chromosome in female cells is a totally random event

Which statement best explains the "thrifty genotype" for the high incidence of type 2 diabetes? A. The person with a thrifty genotype has an efficient metabolism that generates more energy from less food and is more likely to survive famine B. The person with a thrifty genotype conserves the energy lost from the body as heat and requires less rest to perform the same amount of work C. The person with a thrifty genotype stores energy rather than expends energy so that more energy is available for survival when food is scarce D. The person with a thrifty genotype feels satiety with smaller amounts of food and is less likely to become obese, thus increasingly longevity

C. The person with a thrifty genotype stores energy rather than expends energy so that more energy is available for survival when food is scarce

Which statement about achondroplasia is true? A. Females are affected twice as often as males B. The affected infant's appearance at birth is normal C. The protein impaired by the mutation is the receptor for fibroblast growth factor D. Transmission is less of a problem among males with achondroplasia because they are usually infertile

C. The protein impaired by the mutation is the receptor for fibroblast growth factor

How are twins indicated on a pedigree? A. The two gender symbols are placed on top of each other B. Each of the gender symbols is surrounded by an inward-facing set of brackets C. The vertical lines to each twin begin at the same point on the parents' horizontal mating line D. The one born first has a vertical line connected to the parents' horizontal mating line; the twin born second has a vertical line extending down from the first twin's gender symbol

C. The vertical lines to each twin begin at the same point on the parents' horizontal mating line

Why are people who have poor DNA repair mechanisms at greater risk for cancer development? A. Their cancers are usually resistant to chemotherapy B. They have sustained the initial "hit" in all cells and tissues C. Their somatic mutations are more likely to be permanent D. They have greater exposure to environmental carcinogens

C. Their somatic mutations are more likely to be permanent

When constructing a pedigree around a specific health problem, what is the minimal number of generations needed to accurately assess the presence or absence of a genetic factor in disease development? A. One B. Two C. Three D. Four

C. Three

Which form of von Willebrand disease (VWD) is most often diagnosed in early childhood? A. Type 1 VWD B. Type 2 VWD C. Type 3 VWD D. Type 4 VWD

C. Type 3 VWD

Which condition or factor for coronary artery disease (CAD) suggests a greater genetic contribution than environmental contribution to its development? A. When a person develops CAD 5 years after quitting smoking B. When CAD occurs in a person who has normal blood pressure C. When CAD is diagnosed in a person who is younger than 50 years D. When low-density lipoprotein levels can be reduced by dietary changes alone

C. When CAD is diagnosed in a person who is younger than 50 years

Which type of body tissue has the highest risk for cancer development? A. Bone tissue because its absorption of radiation is cumulative B. Connective tissue that remains functional throughout life C. Brain tissue because it does not respond well to injury D. Any tissue that retains the ability to divide

D. Any tissue that retains the ability to divide

Which manifestation is most common among individuals with osteogenesis imperfecta type 1? A. Short stature B. Premature birth C. Skull deformities D. Blue-tinged sclerae

D. Blue-tinged sclerae

A 31-year-old man has been diagnosed with chronic obstructive pulmonary disease (COPD) as a result of being homozygous for the ZZ mutation of the alpha-1 antitrypsin (AAT) gene alleles. His wife has been tested and has the MM genotype on her AAT gene alleles. The man is worried that his three children may eventually develop COPD. What is your best response? A. "Because your wife does not have the mutation, and neither of your parents has the disease, your children will not be affected." B. "Because your wife is not affected and is not a carrier, your children will have normal levels of AAT, and their risk is the same as for the general population." C. "Because you have the mutations, and your wife does not, your son will be at an increased risk for developing COPD, but your daughter will only be a carrier." D. "Because your children will each have only one mutated gene allele, their risk for COPD is primarily dependent on chronic environmental exposure to inhalation irritants."

D. "Because your children will each have only one mutated gene allele, their risk for COPD is primarily dependent on chronic environmental exposure to inhalation irritants."

Juliet tells a nurse that she has three aunts (two on her father's side, ages 42 and 56, and one on her mother's side, age 62) who were diagnosed with breast cancer. She asks if she should have genetic testing. What should the nurse tell her? A. "Your family history indicated a high risk, and you should definitely have genetic testing." B. "Because no men in your family are affected, it is not inherited cancer, so you don't need mammograms or any special screening practices." C. "Because you aunts were older when they got breast cancer, it was probably sporadic, and you should just have regular mammograms like everyone else." D. "Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

D. "Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

Marjory tells a nurse that she has three aunts with cancer. The two on her father's side were diagnosed with breast and ovarian cancers at age 42 and 36. She also has one aunt on her mother's side who was diagnosed with breast cancer at age 70. Marjory asks if she should have genetic testing. What should the nurse tell her? A. "Your family history indicated a high risk, and you should definitely have genetic testing." B. "Because no men in your family are affected, it is not inherited cancer, so you don't need mammograms or any special screening practices." C. "Because your aunts were older when they got breast cancer, it was probably sporadic, and you should just have regular mammograms like everyone else." D. "Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

D. "Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

Which total plasma cholesterol levels are most likely to be present in people who are homozygous for an allele that causes familial hypercholesterolemia? A. 100mg/dL to 200 mg/dL B. 200 mg/dL to 300 mg/dL C. 400 mg/dL to 500 mg/dL D. 600 mg/dL to 1,200 mg/dL

D. 600 mg/dL to 1,200 mg/dL

How does the factor V Leiden increase the likelihood of stoke? A. Factor V Leiden activated protein C B. Factor V Leiden increases thrombin formation C. People affected with factor V Leiden have increased blood viscosity D. Affected people have a type of factor V that is resistant to activated protein C

D. Affected people have a type of factor V that is resistant to activated protein C

When geneticists assess dysmorphology, what do they consider? A. The "gestalt" B. The general feel and overall appearance of the patient C. Specific dysmorphic features, such as the shape of the face and the position of the ears D. All of the above

D. All of the above

Which additional health problem commonly develops in boys with Duchenne muscular dystrophy? A. Arthritis B. Hypertension C. Diabetes mellitus D. Chronic heart failure

D. Chronic heart failure

Which cancer type is associated with a 9;22 translocation? A. Acute promyelocytic leukemia B. Acute lymphocytic leukemia C. Chronic lymphocytic leukemia D. Chronic myelogenous leukemia

D. Chronic myelogenous leukemia

How the a complete carcinogen different from an incomplete carcinogen? A. Complete carcinogens damage oncogenes, and incomplete carcinogens damage suppressor genes B. Complete carcinogens damage suppressor genes, and incomplete carcinogens damage oncogenes C. Incomplete carcinogens are more likely to induce sporadic cancers D. Complete carcinogens are more likely to induce sporadic cancers

D. Complete carcinogens are more likely to induce sporadic cancers

What is the significance of a pedigree symbol consisting of a square with a diagonal slash mark through it? A. Affected female B. Affected male C. Deceased female D. Deceased male

D. Deceased male

Which dietary alterations are necessary to help reduce the complications of phenylketonuria (PKU)? A. Increased intake of phenylalanine; decreased intake of tyrosine B. Increased intake of phenylalanine; increased intake of tyrosine C. Decreased intake of phenylalanine; decreased intake of tyrosine D. Decreased intake of phenylalanine; increased intake of tyrosine

D. Decreased intake of phenylalanine; increased intake of tyrosine

What health advantage does sickle cell trait or disease confer on the person who has it? A. Decreased risk for type 1 diabetes mellitus B. Decreased risk for hypercholesterolemia C. Decreased risk for fulminating cholera D. Decreased risk for malaria

D. Decreased risk for malaria

What health advantage does cystic fibrosis confer on the person who has it? A. Decreased risk for type 1 diabetes mellitus B. Decreased risk for tuberculosis C. Decreased risk for anemia D. Decreased risk for typhoid

D. Decreased risk for typhoid

Which ethnic group has the highest incidence of cystic fibrosis (CF)? A. Asian Americans B. African Americans C. Hispanic Americans D. European Americans

D. European Americans

Which type of testing is most commonly used to diagnose classic hemophilia? A. Hematocrit and hemoglobin levels B. X-chromosome inactivation C. Genetic mutation analysis D. Factor VIII levels

D. Factor VIII levels

Which substance fails to form normally in individuals with Marfan syndrome? A. Elastin B. Glycogen C. Collagen D. Fibrillin

D. Fibrillin

Why is a legend necessary when constructing a pedigree that includes a health history? A. Gender-altering surgeries require either the drawing of both male and female symbols for the same person or the use of a diamond instead of a circle or square B. When a pedigree includes more than three generations, the relationships of members in older (more remote) generations are less clear and must be explained C. The gender of individuals lost in the first trimester of pregnancy cannot be established D. Health problems do not have standard symbols

D. Health problems do not have standard symbols

Which phenotypic feature associated with achondroplasia has variable expression? A. Disproportionally short extremities B. Larger-than-average head size C. Prominent forehead D. Hydrocephaly

D. Hydrocephaly

Which therapeutic option has been found beneficial for patients with Gaucher type 1 disease? A. Daily ingestion of oral sapropterin hydrochloride (Kuvan) B. Intravenous enzyme replacement with alpha-L iduronidase C. Weekly phlebotomy with removal of excess red blood cells D. Intravenous enzyme replacement with imiglucerase (Cerezyme)

D. Intravenous enzyme replacement with imiglucerase (Cerezyme)

Lois has Alzheimer's disease. She and her daughter Linda provided care for Lois's mother Leona when she had severe Alzheimer's disease. Now Linda, age 57, is showing signs of impaired memory. Linda's daughter Lucy is pregnant with her first child and has contacted a genetic counselor to discuss Alzheimer's risk in her family. Who in this family is the proband? A. Leona B. Lois C. Linda D. Lucy

D. Lucy

Multiple sclerosis is more common in people from what geographic area? A. Western Africa B. Southeast Asia C. Mediterranean region D. Northern Europe

D. Northern Europe

How is progression different than metastasis? A. Progression cannot occur unless the process of metastasis occurs first B. Metastasis occurs in both benign and malignant cells, whereas progression is a feature that is unique to malignant cells C. Metastasis is dependent on gene mutations in suppressor genes, and progression is dependent on gene mutations in oncogenes D. Progression involves continual gene changes in a cancer cell that enhance its degree of malignancy, whereas metastasis is the ability of the cell to invade other tissues

D. Progression involves continual gene changes in a cancer cell that enhance its degree of malignancy, whereas metastasis is the ability of the cell to invade other tissues

Which specific type of genetic problem causes sickle cell disease? A. Deletion of an exon B. Deletion of an intron C. Unbalanced translocation D. Single-nucleotide polymorphism

D. Single-nucleotide polymorphism

Which manifestation is a characteristic feature of untreated phenylketonuria (PKU)? A. Increase skin pigmentation B. Excessive urination C. Fragile bones D. Small stature

D. Small stature

Why do the clinical signs and symptoms of hereditary hemochromatosis not appear until middle adulthood? A. The adult over 50 has had more exposures to environmental insults over time B. Prolonged dietary exposure to toxins produces clinical symptoms C. Hereditary hemochromatosis has age-related penetrance D. Stored iron builds up over time, causing organ damage

D. Stored iron builds up over time, causing organ damage

Which health problem occurs at a higher rate among children with achondroplasia than among the general population? A. Cognitive impairment B. Hearing impairment C. Color blindness D. Sudden infant death syndrome

D. Sudden infant death syndrome

What is the function of a normal BRCA1 gene? A. Enhances overall cell growth during puberty B. Directs the development of normal breast tissue C. Increases the expression of cytochrome P450 enzymes D. Suppresses the growth potential of a variety of oncogenes

D. Suppresses the growth potential of a variety of oncogenes

For patients who have familial hypercholesterolemia, what should be the focus of teaching for blood cholesterol reduction? A. Eliminating animal fats from the diet B. Increasing the amount of fruit in the diet C. Exercising at least 4 to 5 hours every week D. Taking the lipid-lowering drug as prescribed

D. Taking the lipid-lowering drug as prescribed

A pair of unrelated 4-year-olds (Lester and Lucy) have mucopolysaccharidosis 1 (MPS1). Lester has severe dysmorphic features and many skeletal anomalies. Lucy has only mildly coarse features and slight developmental delay. What is the best explanation for these differences? A. Skewed X inactivation allowed more paternal X expression for Lucy and more maternal X expression for Lester B. Lucy's mother had better prenatal care, including good diet, exercise, and vitamins, than Lester's mother C. It is likely that Lucy has been misdiagnosed and really has MPS2 D. The disorder has wide variability in expression of severity

D. The disorder has wide variability in expression of severity

How does intravenous enzyme-replacement therapy for Gaucher disease reduce the organ storage of glucosylceramide? A. The enzyme increases the destruction of glucosamine-filled macrophages B. The drug acts as a cofactor, increasing the activity of the mutated enzyme C. The drug increases production of all blood cells in the bone marrow, including white blood cells, which have not stored glucosylceramide D. The enzyme is absorbed through the plasma membranes of affected cells and converts the stored glucosylceramide into its constituent molecules

D. The enzyme is absorbed through the plasma membranes of affected cells and converts the stored glucosylceramide into its constituent molecules

Why is a pedigree considered an "unstable" product? A. The person collecting the information may not be a genetics professional B. Some family members may have lied about their reproductive history C. The memories of older family members may be inaccurate D. The health of living family members continues to evolve

D. The health of living family members continues to evolve

Which issue is considered a "red flag" for the need for referral to a genetics professional? A. A family history fo both breast and colon cancer B. Myocardial infarction in several parents or grandparents older than 64 years of age C. The presence of brothers and sisters who do not resemble any know family member D. The presence of neurodevelopmental disorders in one or more members of the kindred

D. The presence of neurodevelopmental disorders in one or more members of the kindred

Which ear location is considered "low set"? A. The earlobes are aligned with the highest point of the upper lip B. The earlobes are aligned with the highest point of the bottom lip C. The roots of the ears are aligned with the outer canthus of the eyes D. The roots of the ears are aligned an inch below the outer canthus of the eyes

D. The roots of the ears are aligned an inch below the outer canthus of the eyes

Why is predictive testing for Huntington disease avoided for a 4-year-old child who has one grandparent with the disorder? A. Unless one of the parents is positive for the gene mutation, a negative finding would be noninformative B. The Huntington disease mutation is poorly penetrant and may never be expressed even when inherited C. A 4-year-old child cannot understand or participate in the genetic counseling process D. There are no effective primary or secondary prevention strategies for this disorder

D. There are no effective primary or secondary prevention strategies for this disorder

What is the expected outcome of pregnancy for women with phenylketonuria (PKU) when the blood levels of phenylalanine are high throughout the pregnancy? A. Most births are post-mature B. There is a high incidence of infertility C. The infant develops PKU D. There is a high incidence of cardiovascular birth defects

D. There is a high incidence of cardiovascular birth defects

How does an acquired mutation in a somatic cell gene leading to cancer development affect a person's ability to pass on a predisposition for that cancer type to his or her children? A. The predisposition can only be passed on if the person with the somatic cell mutation is female B. The risk for predisposition is dependent upon which tissue type experienced the somatic mutation C. Multiple somatic mutations are required for passing on a predisposition to cancer development D. There is no risk of passing on a cancer predisposition from a somatic cell mutation

D. There is no risk of passing on a cancer predisposition from a somatic cell mutation

Which of the qualities is common to cancer cells? A. Apoptosis of damaged cancer cells occurs at a high rate B. Telomeres of cancer cells have pronounced shortening C. Their production of cell adhesion molecules is excessive D. They continue to grow even when surrounded by other cells

D. They continue to grow even when surrounded by other cells

Which lethal cardiac arrhythmia can occur as a complication of long QT syndrome? A. Atrial node reentry tachycardia B. Prolonged atrial fibrillation C. Mitral valve prolapse D. Torsade de pointes

D. Torsade de pointes

What is the best way to ensure completeness and accuracy in constructing a pedigree? A. Eliminating the contributed information from any family member who is cognitively impaired B. Asking the oldest person in the kindred to provide the familial information C. Having several family members work together to develop the pedigree D. Using a template for drawing the symbols

D. Using a template for drawing the symbols

Naomi and her sister have the same allele for the gene of interest; however, Naomi has cleft lip, whereas her sister only lip pits. What genetic process explains this difference? A. Genomic imprinting B. Decreased penetrance C. Genetic heterogeneity D. Variable expressivity

D. Variable expressivity

For individuals who have increased genetic susceptibility for type 1 diabetes, what is the most common environmental trigger for disease expression? A. Obesity and a sedentary lifestyle B. Exposure to radiation C. Premature birth D. Viral infection

D. Viral infection