ATI RN
Pediatric Genetics Questions
Question 1 of 5
Patients with Turner syndrome should undergo careful analysis of their chromosomes for Y chromosome material because they may
Correct Answer: D
Rationale: Turner syndrome (45,X) patients are at risk of gonadoblastoma if Y chromosome material is present, as it increases the likelihood of gonadal tumors. Masculinization is rare and not the primary concern. They typically have short stature, not tall growth, and are usually infertile, making pregnancy unlikely.
Question 2 of 5
Prader-Willi syndrome may occur from a uniparental maternal disomy of chromosome 15. There is no parental chromosome 15. The expressed phenotype is an example of
Correct Answer: C
Rationale: Prader-Willi results from loss of paternal 15q11-13 (via deletion or maternal uniparental disomy). This is imprinting, where gene expression depends on parental origin. Penetrance, expressivity, mitochondrial inheritance, and nondisjunction don’t apply.
Question 3 of 5
The nomenclature c.2312_2314delinGCGTGGACAAC G denotes:
Correct Answer: D
Rationale: c.2312_2314del indicates deletion of 3 nucleotides (positions 2312-2314). ‘insGCGTGGACAACG’ indicates insertion of 12 nucleotides (GCGTGGACAACG). Thus, it’s a 3-nucleotide deletion followed by a 12-nucleotide insertion.
Question 4 of 5
A couple are both tested, the father is affected with cystic fibrosis and the mother is a carrier of cystic fibrosis gene. What is the chance that they will have a HOMOZYGOUS NORMAL MALE?
Correct Answer: C
Rationale: Father (affected, ff) contributes f. Mother (carrier, Ff) contributes F or f (1/2 each). Child genotypes: Ff (carrier) or ff (affected). No FF (homozygous normal) is possible, so chance = 0. Sex (male) doesn’t change this.
Question 5 of 5
In an experiment gene X was over expressed in neoplastic cell. Consequently, it acquired malignant traits. Gene X is most likely:
Correct Answer: D
Rationale: Proto-oncogenes, when overexpressed, drive malignancy (e.g., cell proliferation). Tumor suppressors inhibit cancer when functional. Cytoskeletal genes and noncoding sequences don’t typically confer malignancy.