Patho Exam 2 Ch 6

A child diagnosed with Down syndrome has experienced a chromosomal abnormally involving which trisomy?

21.

The nurse is studying genetic disorders. She learns that an allele is which of the following?

One of the two members of a gene pair, for a particular trait, in a chromosome pair.

After attending a preconception workshop, a young woman asks the educator to explain neural tube defects (NTD). Which of the following are examples of neural tube defects?

Spina bifida, Anencephaly, and Encephalocele.

The person's phenotype can best be described as which of the following?

Traits that are observable or apparent.

A teratogenic environmental agent can cause birth defects when:

Exposed during early pregnancy.

Fetal alcohol syndrome (FAS) is unlike other teratogens in that the harmful effects on the fetus:

Extend throughout the pregnancy.

Is it true or false that prenatal screening can be used to rule out all possible fetal abnormalities?

False.

The most critical time for teratogenic influence in embryonic development is which one of the following?

From day 15 to day 60 after conception.

As part of her prenatal care, a woman and her partner are being taught by a community health nurse. Which of the following points about the teratogenic effects of different substances should the nurse include in his teaching?

"Your developing baby is most vulnerable during the first two months of your pregnancy."

The U.S Food and Drug Administration established a system in 1979 for classifying drugs according to their proven teratogenicity. Place these classes of drugs in order from least to greatest potential for teratigenicity.

-Class A. -Class B. -Class C. -Class D. -Class X.

While preparing a patient about to undergo percutaneous umbilical cord blood sampling, which of the following information should the nurse provide as pre-procedure teaching? Select all that apply.

-Once the procedure has begun, you must lie very still since they will be inserting a needle through the uterine wall. -During the procedure, an ultrasound will be utilized to guide the catheter into the correct position.

A mother who has one mutant allele on the X chromosome and one normal allele asks the nurse what the percentage is of passing it on to a daughter to be a carrier. The best response would be:

50%.

A newborn has been diagnosed with phenylketonuria (PKU). The nurse teaches the mother about a special diet to restrict phenylalanine intake. When does this diet need to be initiated?

7-10 days of age.

Each cell has 46 chromosomes, 23 from the mother and 23 from the father. The chromosomes are paired with alleles of genes that are paired, and if both members of the gene pair are identical, the person is considered homozygous. What is the person considered if both members of the gene pair are not identical?

Heterozygous.

The nurse explains to prospective parents that AA or aa in a punnett square represent two alleles of a given pair are the same or:

Homozygotes.

Which of the following practitioners is most likely to be of immediate assistance in the first 24 hours following delivery of an infant with a cleft lip?

Lactation consultant.

A nurse confers with the attending physician about a client with encephalopathy that has been attributed to mitochondrial gene mutation. Why do mutations of the mitochondria affect the brain?

"Do not clean your cat's litter box."

The nurse is providing education to the parent of a male diagnosed with Marfan syndrome. The nurse knows that her teaching has been effective when the parent states which of the following?

"His participation in sports may need to be limited."

The parents of a newborn infant are relieved that their baby was born healthy, with the exception of a cleft lip that will be surgically corrected in 10 or 12 weeks. Which of the nurse's following statements to the parent's best conveys the probable cause of the infant's cleft lip?

"Your child's cleft lip likely results from the interplay between environment and genes."

The physician suspects a client may have Klinefelter syndrome. To confirm the diagnosis, the chromosome pattern would identify:

47, XXY.

Which of the following is true about recessive gene inheritance?

A carrier is a non-affected person with a single copy of a recessive gene.

A clinician who works on a cardiac care unit of a hospital is providing care for a number of clients. Which client most likely has a genetic disorder arising from inheritance of a single gene?

A tall, thin, myopic, 28-year old woman with mitral valve prolapse.

A child receives two members of a gene pair, one inherited from the mother and the other from the father. This is interpreted as:

Alleles.

A sonogram on a woman in the first trimester of her pregnancy shows abnormal fetal findings. The nurse prepares to provide the woman with information concerning which diagnostics procedure?

Amniocentesis.

The criteria for fetal alcohol syndrome diagnosis require the documented presence of all of the following except which one? -CNS abnormalities. -An absence of all or part of the X chromosome. -Growth deficits. -Three facial abnormalities.

An absence of all or part of the X chromosome.

A nurse is studying numeric disorders involving autosomes. Which of the following terms refers to having an abnormal number of chromosomes?

Aneuploidy.

The nurse is teaching a pregnant woman about nutrition. The nurse determines that teaching has been effective when the client selects:

Boxed dry cereal.

Which of the following diseases is caused by a genetic defect of chloride transport?

Cystic fibrosis.

Marfan syndrome, which is a connective tissue disorder, affects several organ systems. The most life-threatening aspects of the disorder are caused by defects in which of the following systems?

Cardiovascular.

A woman gave birth to a small infant with a malformed skull. The infant grows slowly and shows signs of substantial cognitive and intellectual deficits. The child also has facial abnormalities that become more striking as it develops. What might the nurse expect to find in the mother's pregnancy history?

Chronic alcohol use.

The nurse is explaining congenital defects to a newly pregnant patient. She explains that one of the most common birth defects is which of the following?

Cleft lip with or without cleft palate.

Abnormalities of body structure, function or metabolism that are present at birth are known as which of the following?

Congenial.

A physician is working with a 30 year old male client with Down syndrome who has been admitted to hospital with a diagnosis of acute leukemia. Which of the following physical assessment finding would the physician be more likely to find in an examination of this client than other clients with Down syndrome?

Congenital heart defects.

Marfan syndrome is a single-gene disorder that affects which type of tissue?

Connective.

The nurse is preparing to administer a pregnant patient's medication when it is noted that the patient is prescribed tetracycline for an infection. The nurse should do which of the following?

Contact the physician.

With increasing age, there is a greater chance of a woman having been exposed to damaging environmental agents such as drugs, chemicals, and radiation. These factors may act on the aging oocyte to cause what in a fetus?

Down sydrome.

A pregnant patient has just undergone cytogenetic studies to determine fetal karyotyping. She learns that her fetus has trisomy 21. Which of the following is a manifestation of this condition?

Epicanthal eye folds.

The doctor is reviewing the prenatal lab work of a client. Select the diagnostic results that indicate a high probability of a fetus having Down syndrome.

Increased alpha-fetoprotein, human chrorionic gonadotropin (HCG), and inhibin A.

Which of the following is a cytogenic disease?

Klinefelter syndrome.

A nurse is caring for an infant born with a cleft lip and palate. The priority of care would address:

Malnutrition.

A pregnant woman's ultrasound reveals intrauterine growth retardation (IUGR) and a TORCH agent is thought to be the cause. Which nursing action is appropriate?

Mitochondrial mutations affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP.

The nurse confers with the attending physician about a client with encephalopathy that has been attributed to mitochondrial gene mutation. Why do mutations of the mitochondria affect that brain?

Mitochondrial mutations affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP.

A biochemical event, such as nucleotide change, deletion, or insertion, that produces a new allele is called which of the following?

Mutation.

The tissue that is damaged in Huntington chorea is which of the following?

Nerve tissue.

Fortification of foods with folic acid has resulted in a significant reduction in the incidence of which of the following?

Neural tube defects.

Which of the following conditions is characterized by a deficiency of the liver enzyme phenylalanine hydroxylase?

Phenylketonuria.

Ultrasonograophy is most likely to detect which of the following fetal abnormalities?

Skeletal abnormalities.

The nurse teaches the patient that ultrasonography will be used during prenatal testing to identify what type of abnormalities?

Skeletal and structural.

Which of the following health problems may be identified by a TORCH screening test?

Rubella and herpes.

Hearing impairment, blindness and adverse neurodevelopment in newborns can be prevented by vaccination against which of the following?

Rubella.

The parents of an infant boy ask the nurse why their son was born with a cleft lip and palate. The nurse responds that cleft lip and palate are defects that are caused by many factors. The defect may also be caused by teratogens. Which teratogens can cause cleft lip and palate?

Rubella.

Select the screening procedure performed on newborns to decrease the risk of mental impairment and compromised neurological development.

Serum phenylalanine test.

Which symptoms support the diagnosis of the autosomal recessive disorder Tay-sachs disease?

Severe mental deterioration originating in infancy.

A person's genotype can best be described as which of the following?

The genetic makeup of an individual.

When the mother of an adolescent with Turner syndrome asks the nurse why the physician is prescribing estrogen therapy, the nurse tells the mother which of the following?

To promote secondary sex characteristics.

A pregnant client is concerned about her baby having normal thyroid function and asks the doctor if there are any measures to take to avoid complications. The physician advises the client to avoid any expose to therapeutic radioactive iodine until the:

Third trimester.

A woman delivered a child with a cleft palate. What will the nurse teach the mother about possible genetic causes?

This can be caused by multiple gene mutations during fetal development.

While examining a patient, the practitioner notices large, flat, cutaneous pigmentations. They are a uniform light brown with sharply demarcated edges. He uses a Wood lamp to better detect the lighter spots. The practitioner knows that the pigmentations may be a component of which disorder?

Von Recklinghausen disease.