ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
Consanguinity may increase the chance that a child will be born with a rare autosomal recessive (AR) condition. The risk of first cousins producing a child with an AR disorder is
Correct Answer: A
Rationale: First cousins share 1/8 genes; AR risk is 1/4 if both carriers, total ~1/16 (A). Rationale: General population risk is lower; consanguinity amplifies rare allele sharing.
Question 2 of 5
Of the following, the one which carries the higher rate of congenital heart disease is
Correct Answer: C
Rationale: Down syndrome (C) has a ~50% CHD rate (e.g., AVSD). Rationale: Turner (A, ~30%), Williams (B, ~80% but rarer), and others (D, E) have lower or less frequent CHDs.
Question 3 of 5
Homeobox gene mutations have been associated with all of the following EXCEPT
Correct Answer: D
Rationale: Homeobox gene mutations are linked to developmental anomalies like hand-foot-uterus syndrome (HOXA13), hypodontia (PAX9), Waardenburg syndrome (PAX3), and pituitary hormone deficiency (PITX2). Type 1 diabetes is primarily autoimmune and not directly tied to homeobox mutations.
Question 4 of 5
The most important reason to carefully screen for Y chromosome material in patients with Turner syndrome is to
Correct Answer: D
Rationale: Y chromosome material in Turner syndrome (e.g., 45,X/46,XY mosaicism) increases gonadoblastoma risk, a potentially malignant tumor. This is the primary screening reason, not masculinization, contraception, androgen therapy, or prostate cancer (which requires a prostate).
Question 5 of 5
Individual A is affected with hearing loss (HL) and his ethnic background is African. Individual E is also affected with HL and his ethnic background is European:
Correct Answer: D
Rationale: Genomic similarity is higher within ethnic groups due to shared ancestry. Individual A (African) is more similar to another unaffected African than to Individual E (European), despite shared HL, which may have different genetic causes.