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 femalesb. Affected males can only have carrier daughtersc. An affected child will always have an affected parentd. 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. penetranceb. associationc. expressivityd. 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. Deletionb. Duplicationc. Inversiond. Translocation

5. The frequency of expression of an allele when it is present in the genotype of an individual is known as the?a. penetranceb. associationc. expressivityd. 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 impairmentb. Secondary liver diseasec. Obesityd. 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 syndromeb. Down syndromec. Klinefelter syndromed. Turner syndrome

10. Down syndrome involves what type of variation in chromosomal numbers?a. Monosomyb. Trisomyc. Polyploidyd. 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 recessiveb. X-linked dominantc. Autosomal recessived. 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. Mitochondrialb. X-linked dominantc. Autosomal recessived. Autosomal dominant

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

A. X-linked recessiveB. X-linked dominantC. Autosomal recessiveD. Mitochondrial

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

A. X-linked dominantB. Autosomal recessiveC. Autosomal dominantD. Mitochondrial

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

A. X-linked recessiveB. X-linked dominantC. Autosomal recessiveD. Autosomal dominant