ATI RN
Genetic Disorders in Pediatrics Questions
Question 1 of 5
If both parents are affected with the same autosomal recessive disorder then the probability that each of their children will be affected equals
Correct Answer: D
Rationale: If both parents are homozygous recessive (aa x aa), all offspring will be aa (100% affected).
Question 2 of 5
In the following partial sequence of mRNA, a mutation of the template DNA results in a change in codon 91 to UAA. What type of mutation is it? | 88 | 89 | 90 | 91 | 92 | 93 | 94 | GUC | GAC | CAG | UAG | GGC | UAA | CCG |
Correct Answer: C
Rationale: UAG is a stop codon; changing codon 91 to UAA (another stop) is nonsense, causing premature termination.
Question 3 of 5
Which of the following fetal tissues are used for studying the fetal chromosomes:
Correct Answer: C
Rationale: Amniotic fluid (C) is used in amniocentesis to study fetal chromosomes. Rationale: It contains fetal cells (e.g., amniocytes) that can be cultured for karyotyping, unlike lymphocytes (postnatal) or cheek swabs (not fetal). Skin biopsy and bone marrow are less common prenatally.
Question 4 of 5
The most commonly used stain for metaphase chromosomes is?
Correct Answer: B
Rationale: Giemsa stain (B) is standard for G-banding in karyotyping. Rationale: Giemsa produces dark (G-positive) and light bands, widely used for chromosome identification. Quinacrine (Q-banding) and trypsin (pre-treatment) are less common alone.
Question 5 of 5
The most common aneuploidy that infants can survive with is (most compatible with life)?
Correct Answer: C
Rationale: Trisomy 21 (Down syndrome, C) is most survivable. Rationale: Edwards (18) and Patau (13) are often lethal early; Turner (45, X) is viable but less common than Down syndrome, which has milder effects and higher live birth rates.