Pre-Test

A Caucasian couple is being seen for prenatal genetic counseling. The MOST APPROPRIATE risk for a neural tube defect for this couple is l-2 per 1000 livebirths 5-6 per 1000 livebirths l-2 per 10,000 livebirths 1-2 per 100,000 livebirths

1-2 per 1000 livebirths

The coefficient of inbreeding (F) for a mating of first cousins once removed is: l/8 l/16 l/32 l/64

1/32

A woman has a maternal grandfather who was affected with Hemophilia (Factor VIII deficiency). The woman already has three healthy sons. What is the probability that her next child will be affected with Hemophilia? 1/4 1/9 1/18 1/36

1/36

A man has an autosomal dominant condition which is 80% penetrant and easily diagnosed at birth. His son is unaffected. What is the likelihood that his son could have inherited the mutant gene although he is unaffected? 1/2 1/4 1/5 1/6

1/6

A young girl presents to the pediatric genetics clinic due to a diagnosis of cystic fibrosis. She has two unaffected brothers. There is no other family history of cystic fibrosis. The carrier risk to the child\'s mother is closest to: 100% 66% 50% 0%

100%

Duchenne muscular dystrophy is inherited in ____ cases none 1/3 2/3 all cases

2/3

The oldest brother of a girl with cystic fibrosis comes in to see you, as he was engaged to be married when his younger sister was diagnosed. His fiancée is worried about their chance of having a child with cystic fibrosis. You tell him that his risk of being a carrier is about: 100% 66% 50% 0%

66%

Genetic testing for mutations in the genes causing HNPCC is best offered first to which family member? A. A person affected with an early onset colon cancer B. An unaffected individual at risk of inheriting HNPCC, since determining his/her status as a gene carrier (or not) first is most important since there are screening decisions to make C. It doesn't matter, whoever has insurance to cover the testing should go first D. It doesn't matter, but never advise patients to use their insurance since a positive test could risk coverage

A. A person affected with an early onset colon cancer

You are meeting with a family who has a daughter with primary respiratory alkalosis. Which one of the following disorders is MOST likely to be associated with this finding? A. Carbamyl phosphate synthetase (CPS) deficiency B. Tyrosinemia C. Pyruvate dehydrogenase complex deficiency D. Methylmalonic acidemia

A. Carbamyl phosphate synthetase (CPS) deficiency

You are examining a patient through the mitochondrial clinic. The 4-year boy presents with infantile onset of symptoms, which include myopathy and liver failure. Testing reveals mutations in the gamma polymerase gene. How do you counsel this family regarding inheritance? Maternal Autosomal recessive Sporadic X-linked dominant

AR

An association represents: A. Non-random group of non-specific anomalies for which no etiology can be determined and no core anomaly occurs with 100% frequency B. An exclusion diagnosis C. A disorder where all the core defects are primary defects (anomalies) D. All of the above

All of the above

An increased nuchal translucency was identified on your patient\'s ultrasound. In speaking with her and her husband about the results, what condition(s) should be addressed based on this result? Congenital heart defect Down syndrome Noonan syndrome All of the above

All of the above

A young man is being evaluated in the metabolic genetics clinic with a diagnosis of homocystinuria. Which of the following features would NOT be included in your interview of past medical history or current problems? Pectus excavatum Arachnodactyly Dislocated lenses Aortic rupture

Aortic rupture

An 8 year old with leukemia has an unaffected 6 year old sister. Their parents request that the 6 year old have genetic testing for a possible cancer gene (a dignosis of Li-Fraumeni syndrome has been confirmed in a close relative). The major ethical concern about such testing would be: Nonmaleficence Beneficence Confidentiality Autonomy

Autonomy

A consultant is a 40-year-old woman with: a sister with breast cancer at 44 years; a sister with follicular carcinoma of the thyroid removed at age 51; a brother who has a 40-year-old daughter with ovarian cancer; a brother who was adopted into the family and who died with autopsy-proved adrenal cortical neoplasm at age 4 years; a mother who died at age 51 years of surgically proved ovarian adenocarcinoma; a maternal aunt who died at age 55 years from bone metastases from breast cancer; a maternal uncle who just got sigmoid colon adenocarcinoma at age 80. The single gene most likely mutant in this family is: BRCA1/2 TP53 RET ATM

BRCA1/2

An 18-year-old woman comes to you for genetic counseling because her twin brother died of leukemia at age 6 and her mother passed away shortly after they were born from a sarcoma at the age of 22. Your patient is found to have a p53 mutation. You explain that she is at the highest risk for which type of cancer: Sarcoma Adrenocortical tumors Leukemia Breast

Breast

For the couple in the previous pregnancy, what is the chance of having another pregnancy with an unbalanced chromosome complement? 0.25 0.5 1 Can't be determined without more information

Can't be determined without more information

Which of the following is considered a primary defect occurring by 8 to 10 weeks of gestation? Web neck Cleft lip Contracture Club feet

Cleft lip

You have a client who loves to hear herself talk. You have even seen her talking to herself in the waiting room when there is no one around. If you want to shut off the verbose behavior of your client, you might consider using: Yawns Silence Open-ended questions Closed-ended questions

Closed-ended questions

Marfan syndrome is a disease of what cell type? Skeletal Connective Tissue Muscle Skin

Connective Tissue

You are called to the NICU to meet with the parents of a baby who is being evaluated for ornithine transcarbamylase (OTC) deficiency. Which one of the following clinical presentations is NOT described with OTC? A. Reye syndrome-like illness B. Coma during a flu-like illness C. Neonatal coma D. Lethargy following the ingestion of foods containing fructose or sucrose

D. Lethargy following the ingestion of foods containing fructose or sucrose

Etelpirsen is an exon skipping drug approved for DMD out of frame deletions DMD in frame deletions Spinal muscular atrophy Freidreich's Ataxia

DMD out of frame deletions

Which disease is not correctly matched with the correct location they affect? SMA; anterior horn cells DMD; motor nerves CMT; sensory nerves skeletal dysplasias; bone

DMD; motor nerves

A young patient is seen in the metabolics clinic based on a history of hypoglycemia, which is commonly associated with the presence of abundant ketones in the urine. Which one of the following causes of hypoketotic hypoglycemia (low blood glucose with low urine ketones) is the MOST common? A. Fatty acid oxidation defects B. Disorders of carnitine transport C. Hyperinsulinism D. Hydroxymethylglutaryl (HMG) CoA lyase deficiency

Fatty acid oxidation defects

Screening for Wilms tumor should be initiated for a 2-month-old infant with each condition, except one: Hereditary aniridia Hemihypertrophy WAGR syndrome Wiedemann-Beckwith syndrome

Hereditary aniridia

Which of the following characteristics is not necessary to define a complex trait? High prevalence Incomplete penetrance Locus heterogeneity Phenocopy

High prevalence

A couple moves to a new community with their young son. They choose a pediatrician and an appointment is made. As soon as the boy enters the office, the physician notes that he has coarse facial features. A referral is made to an ophthalmologist who notes no eye abnormalities. Which one of the following diagnoses is this boy MOST likely to have? G6PD Phenylketonuria Hunter syndrome Zellweger syndrome

Hunter syndrome

A patient is seen in the metabolic genetics clinic for a diagnosis of tyrosinemia, type 1. As you speak with the family regarding the patient\'s symptoms, which one of the following symptoms would you not include in your intake of past medical history? Intellectual disability Cirrhosis of the liver Hypertensive crisis Rickets

Intellectual disability

A woman is being seen for pre-conception genetic counseling and expresses interest in pre-implantation diagnosis because of a history of a genetic condition. For which of the following conditions would you tell her that pre-implantation diagnosis is NOT possible? Achondroplasia Fanconi anemia Neural tube defects Cystic fibrosis

Neural tube defects

Lisch Nodules are most helpful in diagnosing Marfan syndrome Neurofibromatosis type 1 Tuberous sclerosis Sturge Weber

Neurofibromatosis type 1

A three year old girl presents to the pediatric clinic with a history of an overgrowth disorder and post-surgically repaired omphalocele. The family has two older sons (15 yrs and 18 yrs) who are in good health. There are no other affected family members. The mother informs you that they had trouble getting pregnant with their daughter and conceived this pregnancy with the help of IVF.The family informs you that they would really like to have one more child but are concerned about the recurrence. Based on the scenario the most likely inheritance for this syndrome is: Autosomal recessive Autosomal dominant Sporadic X-linked

Sporadic

The most common autosomal trisomy in human conceptions is Trisomy 8 Trisomy 16 Trisomy 18 Trisomy 21

T16

When should visual aids be used during a telegenetics session? A. Only if the patient asks for it B. Whenever they may be useful for explanation C. With every patient D. Throughout the entire session

Whenever they may be useful for explanation

Supravalvular aortic stenosis is most commonly found in Noonan syndrome Marfan syndrome Homocystinuria Williams syndrome

Williams

Huntington disease should be suspected in an individual with chorea speech difficulties weight loss all of the above

all of the above

Which of the following is a benefit of telegentic counseling? A. expand access to underserved populations B. reduce cost for providers and patients C. convenience for patients and genetic counselors D. all of the above

all of the above

Which of the following is considered a challenge of whole exome testing interpretation? reduced penetrance variable expressivity epigenetic factors all of the above

all of the above

Copy number variants Always cause disease Are usually the same size Cannot be detected by microarray Are common in healthy individuals

are common in healthy individuals

A limitation of chromosomal microarray is that it A. cannot detect balanced rearrangements B. cannot detect copy number changes C. cannot detect homozygosity D. cannot detect changes throughout the genome

cannot detect balanced rearrangments

Duchenne Muscular dystrophy is often ultimately fatal due to cardiomyopathy seizures scoliosis cognitive decline

cardiomyopathy

Mutations in the ABCD1 gene A. affects the adrenal glands only B. are autosomal recessively inherited C. causes X-linked adrenoleukodystrophy D. generally don't cause symptoms until adulthood

causes X-linked adrenoleukodystrophy

Which of the following is not a common reason to order a microarray? A. apparently syndromic genetic disorders B. autism C. ultrasound abnormalities during pregnancy D. certain cancer treatments

certain cancer treatments

DNA methylation is expected to have what effect on the DNA? A. decreased gene expression B. increased gene expression C. no effect D. more information is needed to determine the effect

decreased gene expression

Defects dystroglycan genes can cause all of the following disorders except: Limb-girdle muscular dystrophy duchenne muscular dystrophy Walker-Warburg disease congenital muscular distrophy

duchenne muscular dystrophy

What type of mutation affects more than one nucleotide? frame-shift nonsense missense silent

frame-shift

What other body system is often affected in individuals with cystic fibrosis, other than the respiratory system? gastrointestinal neurological skeletal cardiac

gastrointestinal

Hereditary Spastic Paraplegia is characterized by rapid progression genetically heterogeneous full body weakness autosomal dominant inheritance

genetically heterogeneous

Which of the following is not caused by a dysfunctional CFTR protein? decreased chloride secretions increased sodium absorption increased chloride secretions fluid and ion imbalances

increased chloride secretions

The gene that causes cystic fibrosis (CFTR) normally encodes what kind of protein? ion channel structural protein enzyme antibody

ion channel

Which individuals should be screened for Fragile X Tremor Ataxia syndrome? men and women with 50 repeats only women with 50 repeats only men with 50 repeats man or woman with 100 repeats

man or woman with 100 repeats

Limb-Girdle muscular dystrophy affects men only men and women equally women only depends on the type

men and women equally

Congenital myotonic dystrophy is caused by more than 1,000 triplet repeats paternal inheritance autosomal recessive inheritance a metabolic dysfunction

more than 1,000 triplet repeats

Trio testing on whole exome sequencing refers to samples from patient and both biological parents three affected individuals the patient and any two family members samples from three tissue types of the affected individual

patient and both biological parents

Which of the following is not a typical challenge when doing telegenetic counseling? timing of appointments technology complications genetic counselor licensure billing for services

timing of appointments

A couple at risk for having a child with Down syndrome is being seen in your genetics clinic. Which of the following statements is true? A. Down syndrome is the most common autosomal chromosome disorder in live births B. More than one-half of children with Down syndrome are born to mothers above the age of 35 C. Down syndrome risk decreases with advancing maternal age D. Second-trimester ultrasound can diagnose Down syndrome with high accuracy.

A. Down syndrome is the most common autosomal chromosome disorder in live births

Which of the following is not true about the process of imprinting? A. Imprinted genes frequently change over the lifetime of an individual B. imprinting patterns are determined by methylation C. imprinted genes are established during gametogenesis D. unlike most genes, imprinted genes do not have methylation removed at fertilization

A. Imprinted genes frequently change over the lifetime of an individual

Which of the following tests is recommended by the American College of OB/Gyn for all pregnant patients who present for care in the first trimester? A. Integrated first and second trimester screening B. First trimester screening only C. Second trimester screening only D. Nuchal translucency measurements

A. Integrated first and second trimester screening

When contracting with a patient concerning laboratory test results, one should: A. Make a plan for reporting test results B. Provide a toll free number for contacting the laboratory directly C. Suggest the patient complete a medical record form to request the laboratory report D. Demonstrate how to navigate the laboratory's website

A. Make a plan for reporting test results

Which of the following is not a connective tissue disease? Marfan syndrome Ehlers-Danlos Syndrome Achondroplasia Osteogenesis imperfecta

Achondroplasia

A products of conception sample (POC) is karyotyped in your Cytogenetics Lab with this result: 46,XX,der(3)t(3;7)(p25;q32). The parents were previously studied and the father was found to have the following karyotype: 46,XY,t(3;7)(p25;q32). Which word or phrase below best describes the meiotic origin of the POC karyotype? Alternate segregation Adjacent segregation 3:1 segregation Nondisjunction

Adjacent segregation

A 75-year-old woman with a recent diagnosis of breast cancer reports that she started her menstrual period at the age of 11 and had her first and only child at age 30. Which of the following was her most significant risk factor for developing breast cancer? Age at menarche Age at first birth Number of livebirths Age

Age

In regards to medical record documentation, it is not permissible to: A. Change dates so the chronological order of information is maintained B. Justify mistakes C. Alter another provider's documentation D. All of the above

All of the above

You work in a prenatal screening laboratory and receive a result with an elevated maternal serum AFP. Possible causes for this result include Fetal death Anencephaly Mis-dating All of the above

All of the above

Multiculturalism encompasses: A. An understanding of the values and attitudes of others B. Sharing of values C. Agreeing to practices and rituals which we do not practice D. Intellectually becoming aware of our own cultural heritage

An understanding of the values and attitudes of others

A woman is being seen in the prenatal genetics clinic following a routine screening ultrasound which identified a birth defect. Which of the following conditions is most likely to be diagnosed by a routine screening ultrasound? Cleft palate Anencephaly Down syndrome Cleft lip

Anencephaly

Huntington disease is caused by an: A. Expanded trinucleotide repeat in the promoter region of the gene. B. Expanded trinucleotide repeat in the protein-coding region of the gene. C. Expanded trinucleotide repeat in an intron of the gene. D. Expanded trinucleotide repeat in the 3' untranslated region of the gene

B. Expanded trinucleotide repeat in the protein-coding region of the gene.

The co-existence of 2 or more mtDNA types in the same cell, tissue and organism is known as: Homoplasmy Heteroplasmy Mosaicism Mutation

B. Heteroplasmy

A boy with an unknown mitochondrial disease and a negative family history is how likely to have an affected child with the same condition: A. Essentially never (unless in a consanguineous union) B. Quite unlikely, but possible in the rare case of autosomal dominant inheritance C. Estimated 25% D. 0-100% - unable to determine

B. Quite unlikely, but possible in the rare case of autosomal dominant inheritance

Which of the following is not considered a prerequisite for the implementation of a neonatal screening program? A. The disorder should be an important health problem B. The disorder should be symptomatic in the neonatal period C. Facilities for follow-up should be available D. The screening test should have a few false positives and false negatives.

B. The disorder should be symptomatic in the neonatal period

A three year old girl presents to the pediatric clinic with a history of an overgrowth disorder and post-surgically repaired omphalocele. The family has two older sons (15 yrs and 18 yrs) who are in good health. There are no other affected family members. The mother informs you that they had trouble getting pregnant with their daughter and conceived this pregnancy with the help of IVF. Genetic testing for a particular syndrome that fits the presentation in this case is ordered and returns positive. Which of the following conditions is the daughter most likely to have? Beckwith Wiedemann Syndrome Proteus Syndrome Sotos Syndrome Weaver Syndrome

Beckwith Wiedemann Syndrome

In mitochondrial disease, exercise can: A. Precipitate rhabdomyolysis (muscle breakdown) B. Increase strength and endurance C. Both; moderate and careful training are key D. None of the above

C. Both; moderate and careful training are key

A female patient you are scheduled to see speaks only Mandarin. In selecting an interpreter for this session, which of the following is not a factor to consider? A. Choose an individual trained in medical terminology B. Talk with the interpreter beforehand to establish an approach C. Expect an exact word-for-word translation D. Ask the patient through the interpreter what the patient's expectations, fears, and concerns are

C. Expect an exact word-for-word translation

A 40-year-old Caucasian woman has a paternal aunt diagnosed with breast cancer at 43, and another paternal aunt diagnosed with breast cancer at age 29. Her first period was at age 12, she had her first child at age 28 and has had no breast biopsies. She has no maternal history of breast cancer, but her maternal aunt was diagnosed with ovarian cancer at age 56. How would you expect her Gail and Claus models to compare? A. The risks should be similar B. Her Gail model risk would be higher C. Her Claus model risk would be higher D. Neither model predicts her risk would be higher than the average woman's risk due to the paternal nature of her family history

C. Her Claus model risk would be higher

A couple inquires about the usefulness of testing fetal DNA isolated from maternal circulation. Your BEST response is that this test is: A. Most reliable when using fetal lymphocytes B. Associated with very low false negative rate for microdeletion syndromes. C. Highly accurate with a 99% detection rate for trisomy 21 D. An excellent screening test for all chromosome abnormalities

C. Highly accurate with a 99% detection rate for trisomy 21

Which of the following is true about cell-free DNA testing? A. It will identify 100% of cases of trisomy 13, 18, and 21. B. It has a comparable false-positive rate to biochemical screening. C. It has a higher positive predictive value for trisomy 21 than biochemical screening. D. It has a higher positive predictive value in lower-risk patients than in higher-risk patients.

C. It has a higher positive predictive value for trisomy 21 than biochemical screening.

Migraine and multiple strokes or stroke-like episodes is most consistent with: Kearns-Sayre syndrome Leigh disease MELAS MERRF

C. MELAS

You are a pediatrician, and a newborn is on a first visit with a parent-related note of \"failing the newborn hearing screening test\" at a hospital nursery. You appropriately think the following: A. The parents are likely deaf as well. B. That the family is from North Africa, due to the prevalence of DFNB1 mutations in this population. C. The child should have a diagnostic evaluation with an audiologist. D. Whole exome screening is the most appropriate next test to offer.

C. The child should have a diagnostic evaluation with an audiologist.

When a significant association between disease and a marker allele was found in a case-control study, the following statement was correct. A. The marker causes the disease B. The marker allele causes the disease C. The marker allele is associated with the disease status D. The marker is not in linkage disequilibrium with the disease

C. The marker allele is associated with the disease status

A mother presents to the genetics clinic with her 14-month son for concerns of developmental delays and hypotonia. The family history reveals the mother has a history of cataracts and heart arrhythmia and her father also has cataracts and baldness. The most likely diagnosis is Spinal muscular atrophy Congenital myotonic dystrophy Limb-girdle muscular dystrophy Bethlem myopathy

Congenital myotonic dystrophy

Believe it or not, your current client reminds you of your mother. Every time you meet in session with this client you start thinking about all of those unresolved issues you have with Mom and you catch yourself watching the clock on the wall behind the client, wishing the session would end. In fact, you are starting to dislike this client and are considering terminating and referring her to another counselor. Chances are you are experiencing: Guilt versus initiative Parental interjections Countertransference Transference

Countertransference

What is the most likely syndromic diagnosis for a 42-year-old woman with bilateral adenocarcinoma of the breast, multiple thyroid adenomas, hyperkeratotic palmar papules, and gingival keratosis? Nevoid basal cell carcinoma syndrome Multiple mucosal neuroma syndrome Cowden multiple hamartoma syndrome Muir-Torre syndrome

Cowden multiple hamartoma syndrome

A brother and sister presented in early infancy with moderate developmental delay and a severe seizure disorder. No other family members are affected. Muscle biopsy in the boy supports the presence of a mitochondrial disorder. The recurrence risk in future siblings is most likely: 25% 50% Very high (likely ~80%) Cannot determine from this information

D. Cannot determine from this information

A child is suspected of having a mitochondrial disease based upon clinical, laboratory and pedigree-based information. \"Standard mtDNA analysis\" was negative. Which of the following statements is most accurate: A. The patient does not have a mitochondrial disorder. B. The patient probably has a nuclear-encoded mitochondrial disorder (X-linked or autosomal dominant). C. Standard mtDNA testing is very insensitive, and mtDNA disease is present. D. Could be any of the above; careful evaluation and a very detailed pedigree are indicated.

D. Could be any of the above; careful evaluation and a very detailed pedigree are indicated.

The bottleneck phenomenon results in: A. The absence of clinical disease until mutant mtDNA levels reach a certain level. B. Sporadic disease in the case of a large mtDNA deletion. C. Varying proportions of mutant heteroplasmy among tissues in an affected individual. D. Often drastically varying proportions of mutant heteroplasmy among individuals in a family segregating a mtDNA mutation

D. Often drastically varying proportions of mutant heteroplasmy among individuals in a family segregating a mtDNA mutation

An unaffected woman with a BRCA1 mutation questions you about why her lifetime risk for breast cancer has such a wide range of approximately 55-85%. You explain that early studies found an 85% chance of female breast cancer associated with BRCAl. Which of the following is the best explanation for this: A. The initial studies failed to account for individuals in the families with mutations who may have died without ever developing cancer B. The initial studies were found to be incorrect, in fact risk is much lower for all individuals with BRCAl mutations C. The initial studies contained families with both breast and ovarian cancer, and not just site specific breast cancer families D. The initial studies were enriched for highly penetrant families collected for linkage purposes

D. The initial studies were enriched for highly penetrant families collected for linkage purposes

Myopathy is: A. a specific diagnosis B. always caused by a genetic disease C. not inherited D. a broad term encompassing many disorders

D. a broad term encompassing many disorders

Mitochondrial disease is frequently: Progressive Intermittent Static All of the above

D. all of the above

Your patient has had a total colectomy as treatment for colon cancer earlier in life. Screening with annual upper endoscopy is especially important if his colon cancer was due to which of the following genetic conditions: FAP Lynch syndrome BRCA1/BRCA2 Cowden Syndrome

FAP

A couple is deciding whether or not to test their 12-year-old for the APC mutation that was identified in the child\'s father. You explain that the risks for cancer associated with this mutation are present: From infancy on From about age 11-12 on From about age 20-25 on From about age 30 on

From infancy on

All of these conditions are caused by errors in imprinting other than: Prader-Willi syndrome Russell-Silver syndrome Beckwith Wiedemann syndrome Loeys-Dietz syndrome

Loeys-Dietz syndrome

A man with a high MSI colon cancer diagnosed at age 30 has a brother diagnosed with colon cancer at age 32, who also has a high MSI tumor. Testing for mutations in the MSH2 gene failed to reveal a mutation. The most likely place to find a mutation now is in which gene? MLH1 APC MSH6 COL2

MLH1

You are meeting with a couple who is considering amniocentesis to rule out Down syndrome based on an increased risk found on first trimester screening. You inform them that the MOST SIGNIFICANT risk of amniocentesis is: Fetal injury Maternal infection Dry tap Miscarriage

Miscarriage

Scenario associated with the next two questions: A 3-year old boy presents to the pediatric genetic clinic with the following history: short stature, speech and language delays, and pulmonic stenosis. The geneticist notes the following physical features: triangular face, low-set posteriorly rotated ear, blue-green irides, and web neck.Which syndrome do you suspect? Turner Williams Noonan Down syndrome

Noonan

Which of the following is not a common vision problem associated with Marfan disease? Nystagmus Ectopia lentis myopia glaucoma

Nystagmus

A 15-year-old male is being seen for muscle weakness. Amongst the differential diagnoses is Becker muscular dystrophy (BMD). Which of the following are consistent with this diagnosis? A. Deletion mutations in the dystroglycan gene B. Proximal muscle weakness C. Elevated serum transaminase levels D. Congenital joint contractures

Proximal muscle weakness

You are meeting with a patient who has late-onset Tay-Sachs disease. Which one of the following clinical symptoms is MOST likely to be listed in his current concerns or recent medical history? Cherry red spot Epilepsy Liver enlargement Psychosis

Psychosis

During the session the family informs you that their daughter who is 5 years old has similar features to their son but that their 18-month twins do not seem to have the same delays or physical features. What recurrence rate should you give this family? Less than 25% 25% 50% Unable to determine

Unable to determined

Concerning Duchenne muscular dystrophy (DMD), which of the following is true: A. 2/3 of the mothers of an isolated case of DMD are carriers. B. Mutations typically cause a gain-of-function of the encoded protein. C. Carriers have a <1% risk of dilated cardiomyopathy. D. The progression of muscle weakness is distal to proximal.

2/3 of the mothers of an isolated case of DMD are carriers.

You're counseling a couple about whole exome testing for their child. The patient has had all normal testing up until this point and the family is still looking for a genetic answer for the child\'s symptoms. The couple asks how likely this test is to give them an answer. What range do you quote them? 0 - 25% 25 - 50% 50 - 75% 75 - 100%

25 - 50%

The percentage of breast cancer caused by germline mutations in a gene inherited in a Mendelian fashion is: 35-50% 15-35% 5-10% 1-2%

5-10%