PED Ch. 3

Parents of a child with hemophilia A ask the nurse, "What is the deficiency with this disorder?" Which correct response should the nurse make?

Ans: "Hemophilia A has a deficiency in factor VIII."

A father with an X-linked recessive disorder asks the nurse what the probability is that his sons will have the disorder. Which response should the nurse make?

Ans: "None of the sons will have the disorder"

The nurse is teaching parents of a child with cri du chat syndrome about this disorder. The nurse understands parents understand the teaching if they make which statement?

Ans: "The crying pattern is abnormal and catlike."

The nurse is teaching student nurses about newborn screening. Which statement made by the student indicates understanding of the teaching?

Ans: "The initial specimen should be collected as close to discharge as possible."

Parents ask the nurse if there was something that should have been done during the pregnancy to prevent their child's cleft lip. Which statement should the nurse give as a response?

Ans: "The malformation occurs at approximately 5 weeks of gestation; there is no known way to prevent this."

Turner syndrome is suspected in an adolescent girl with short stature. What causes this?

Ans: Absence of one of the X chromosomes

Which is characteristic of X-linked recessive inheritance?

Ans: Affected individuals are principally males

Parents ask the nurse about the characteristics of autosomal recessive inheritance. Which is characteristic of autosomal recessive inheritance?

Ans: Affected individuals have unaffected parents

A newborn has been diagnosed with congenital adrenal hyperplasia. Which assessment finding should the nurse expect?

Ans: Ambiguous genitalia

Chromosome analysis of the fetus is usually accomplished through the testing of which?

Ans: Amniotic fluid

Which ethnic group is at risk for Tay-Sachs disease?

Ans: Ashkenazi Jewish

Which genetic term refers to a person who possesses one copy of an affected gene and one copy of an unaffected gene and is clinically unaffected?

Ans: Carrier

Early diagnosis of congenital hypothyroidism (CH) and phenylketonuria (PKU) is essential to prevent which?

Ans: Cognitive impairment

Which can be directly attributed to a single-gene disorder? Select all that apply

Ans: Cystic fibrosis Ans: Neurofibromatosis

Parents ask the nurse about the characteristics of autosomal dominant inheritance. Which statement is characteristic of autosomal dominant inheritance?

Ans: Each child of a heterozygous affected parent has a 50% chance of being affected.

The inheritance of which is X-linked recessive?

Ans: Hemophilia A

The nurse is reviewing a client's prenatal history. Which prescribed medication does the nurse understand is not considered a teratogen and prescribed during pregnancy?

Ans: Heparin sodium (heparin)

A child has been found to have a deficiency in 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase. Which condition is this child at risk for?

Ans: Hypercholesterolemia

A woman, age 43 years, is 6 weeks pregnant. It is important that she be informed of which?

Ans: Increased risk for Down syndrome

The nurse is interviewing a prenatal client about specific risk factors that are indications for prenatal testing. Which specific risk factors should the nurse note?

Ans: Inherited disorder Ans: Cytomegalovirus infection Ans: Previous stillbirth or neonatal death

A child with Prader-Willi syndrome has been hospitalized. Which assessment findings does the nurse expect with this syndrome?

Ans: Insatiable hunger

Which are signs and symptoms the nurse should assess in the newborn that can indicate an inborn error of metabolism?

Ans: Jaundice Ans: Poor feeding Ans: Metabolic acidosis

Which is a sex chromosome abnormality that is caused by the presence of one or more additional X chromosomes in a male?

Ans: Klinefelter

The nurse is assessing a neonate who was born 1 hour ago to healthy white parents in their early forties. Which finding should be most suggestive of Down syndrome?

Ans: Low-set ears

The nurse is teaching nursing students about assessment clues to genetic disorders in the newborn. Which should the nurse include in the teaching session?

Ans: Low-set ears Ans: Epicanthal folds Ans: Forehead prominence

Ans: The phenotype appears in consecutive generations Ans: Males and females are equally likely to be affected Ans: Children of an affected parent have a 50% chance of being affected

Ans: Males and females are equally affected Ans: Carrier parents have a 25% chance of producing an affected child Ans: Carrier parents have a 50% chance of producing a carrier child in each pregnancy

The nurse understands that which occurring soon after birth can indicate cystic fibrosis?

Ans: Meconium ileus

A hospitalized school-age child with phenylketonuria (PKU) is choosing foods from the hospital's menu. Which food choice should the nurse discourage the child from choosing?

Ans: Milkshake

A couple asks the nurse about the optimal time for genetic counseling. They do not plan to have children for several years. When should the nurse recommend they begin genetic counseling?

Ans: Now, if they are members of a population at risk for certain diseases

Phenylketonuria is a genetic disease that results in the body's inability to correctly metabolize which?

Ans: Phenylalanine

Which is a birth defect or disorder that occurs as a new case in a family and is not inherited?

Ans: Sporadic

A breastfed infant has just been diagnosed with galactosemia. The therapeutic management of this includes which?

Ans: Stop breastfeeding the infant

A couple expecting their first child has a positive family history for several congenital defects and disorders. The couple tells the nurse that they are opposed to abortion for religious reasons. Which should the nurse consider when counseling the couple?

Ans: The couple should be encouraged to have recommended diagnostic testing

The nurse is reviewing the characteristics of autosomal dominant inheritance. Which are true about these characteristics?

Ans: The phenotype appears in consecutive generations Ans: Males and females are equally likely to be affected Ans: Children of an affected parent have a 50% chance of being affected

A couple has given birth to their first child, a boy with a recessive disorder. The genetic counselor tells them that the risk of recurrence is one in four. Which statement is a correct interpretation of this information?

Ans: The risk factor remains the same for each pregnancy

Which genetic term refers to the transfer of all or part of a chromosome to a different chromosome after chromosome breakage?

Ans: Translocation

Which abnormality is a common sex chromosome defect?

Ans: Turner syndrome