A client who is gravida 2 and 16 weeks of gestation comes in for her prenatal appointment. Her 2-year-old daughter is with her and is wearing a sleeveless top. While interacting with her daughter, you note axillary freckling and several café-au-lait spots (>2 cm). In reviewing her chart, the nurse should assess for documentation of which genetic disease?

Correct Answer: C

Rationale: Clinical manifestations of NF may include axillary freckling and café-au-lait spots. Tay-Sachs disease is an incurable lipid-storage disorder and is not associated with café-au-lait spots. Galactosemia is an inborn error of metabolism and is also not associated with café-au-lait spots. PKU is not associated with café-au-lait spots. A child with PKU would have difficulty manufacturing the liver enzyme phenylalanine.

Correct Answer: A

Rationale: The genotype comprises all the genes the individual can pass on to a future generation. The phenotype is the observable expression of an individual's genotype. The karyotype is a pictorial analysis of the number, form, and size of an individual's chromosomes. Genotype refers to an individual's genetic makeup.

Correct Answer: C

Rationale: Perhaps the most important of all nursing functions is the ability to provide emotional support. Nurses should be prepared to help with various stress reactions from a couple facing the possibility of a genetic disorder. Although anyone may have a genetic disorder, certain disorders appear more often in certain ethnic and racial groups. Genetic health care is highly individualized because treatments are based on the phenotypic responses of the individual. Individual nurses at any facility can take a genetic history, although larger facilities may have better support services.

Correct Answer: A

Rationale: Failed to generate a rationale of 500+ characters after 5 retries.

Correct Answer: C

Rationale: Failed to generate a rationale of 500+ characters after 5 retries.