ATI RN
Pediatric Genetic Disorders Questions
Question 1 of 5
Which of the following is NOT a familial cancer syndrome:
Correct Answer: C
Rationale: Waardenburg syndrome causes pigmentation/hearing issues, not cancer. Others (Li-Fraumeni, NF2, FAP) are cancer syndromes.
Question 2 of 5
Phenotypic features:
Correct Answer: D
Rationale: Phenotypic features refer to observable physical characteristics, often altered in genetic disorders.
Question 3 of 5
Mutations are changes which occur in a (i) or a (ii) If a mutation occurs in a cell which is going to form a (iii) the mutation may affect the whole (iv) which develops. Down syndrome results from a (v) mutation in the (vi)
Correct Answer: B
Rationale: Mutations occur in genes or chromosomes. Germline mutations (gametes) affect the whole organism. Down syndrome is a chromosomal mutation (trisomy 21). Correct sequence: B, D, C, E, D, D.
Question 4 of 5
In people with sickle cell disease the red blood cells breakdown, clump, and clog the blood vessels. The broken cells accumulate in the spleen. Among other things, this leads to physical weakness, heart failure, pain, brain damage and spleen damage. Affected individuals become paralyzed and can develop rheumatism, pneumonia and other diseases and kidney failure. This is an example of:
Correct Answer: B
Rationale: Pleiotropy is when one gene affects multiple traits. The sickle cell allele causes a wide range of symptoms (e.g., pain, organ damage), exemplifying pleiotropic effects.
Question 5 of 5
which of the following human genetic disorders is sex linked?
Correct Answer: A
Rationale: Hemophilia is X-linked recessive, unlike PKU, cystic fibrosis (autosomal recessive), and achondroplasia (autosomal dominant).