Genetics Practice NCLEX questions

1. Which statement made by a parent indicates correct understanding of autosomal recessive

genetic disorders?
a. They affect males greater than females
b. Affected males can only have carrier daughters
c. An affected child will always have an affected parent
d. They affect males and females equally
2. A recognized pattern of anomalies whose etiology is a single cause is called a(n)
______________ whereas a nonrandom pattern of malformations for which a cause has
not been determined is called a(n) __________________.
3. The varying degree to which a specific phenotype is displayed is called the?
a. penetrance
b. association
c. expressivity
d. homogeneity
4. What term refers to the process where unequal crossing over or abnormal segregation of
homologous chromosomes results in a chromosome having a missing segment?
a. Deletion
b. Duplication
c. Inversion
d. Translocation
5. The frequency of expression of an allele when it is present in the genotype of an
individual is known as the?
a. penetrance
b. association
c. expressivity
d. homogeneity
6. The nurse correctly recognizes that a shared goal of early intervention for both
hypothyroidism and phenylketonuria (PKU) is avoidance of which complication?
a. Cognitive impairment
b. Secondary liver disease
c. Obesity
d. Heart disease

7. Match the following types of genetic testing with their associated definition.
1. Diagnostic testing
___________
2. Prenatal testing
___________
3. Newborn screening
___________
4. Pre-implantation testing ___________
5. Carrier Testing
___________
6. Predictive testing
___________
a. Testing in an asymptomatic individual to identify carrier status for a genetic
condition.
b. Offered usually to asymptomatic individuals to detect genetic conditions that occur
later in life.
c. Testing of a neonate to identify the presence of a condition that requires immediate
initiation of treatment to prevent death or disability.
d. Following in vitro fertilization, testing is performed on embryos to identify embryos
with a particular genetic disorder.
e. Used to establish a diagnosis of a genetic disorder in an individual who is
symptomatic or has had a positive screening test.
f. Testing to identify a fetus with a genetic disease or condition and is usually initiated
due to family history or maternal factors.
8. A new mother of an infant with PKU has been informed that PKU follows autosomal
recessive inheritance. The mother states that this is a relief since she now knows her next
baby will not have the disease. What additional information should the nurse provide?
a. Only female babies will have PKU.
b. With autosomal inheritance, each baby has a 25% chance of having the disease.
c. The mother passes the gene only to male offspring.
d. Since this baby has the disease, the next 3 babies will not have the disease.
9. A female presents with lymphedema in hands and feet, a short/Webbed neck, a low
posterior hairline, short stature, and delayed physical development. Based on this
information, the patient most likely has?
a. Fragile-X syndrome
b. Down syndrome
c. Klinefelter syndrome
d. Turner syndrome

10. Down syndrome involves what type of variation in chromosomal numbers?

a. Monosomy
b. Trisomy
c. Polyploidy
d. Euploidy
11. Upon completing a three generation pedigree in an affected male patient, it was noted by
the nurse that one particular health condition is also seen in his sister and maternal
grandmother. His parents are not affected. What pattern of inheritance is most likely
based on this information?
a. X-linked recessive
b. X-linked dominant
c. Autosomal recessive
d. Autosomal dominant
12. Upon completing a three generation pedigree in an affected male patient, it was noted by
the nurse that his parents are both carriers for the disorder. What pattern of inheritance is
most likely based on this information? No one else in his family is affected.
a. Mitochondrial
b. X-linked dominant
c. Autosomal recessive
d. Autosomal dominant

Continue on to the next page.

13. Based on the following three-generation pedigree, what pattern of inheritance is most
likely?

A. X-linked recessive
B. X-linked dominant
C. Autosomal recessive
D. Mitochondrial

14. Based on the following three-generation pedigree, what pattern of inheritance is most likely?

A. X-linked dominant
B. Autosomal recessive
C. Autosomal dominant
D. Mitochondrial

15. Based on the following three-generation pedigree, what pattern of inheritance is most likely?

A. X-linked recessive
B. X-linked dominant
C. Autosomal recessive
D. Autosomal dominant