ATI RN
Pediatric Genetic Disorders Questions
Question 1 of 5
Mutations that cause achondroplasia exert an effect, which can be classified as:
Correct Answer: B
Rationale: Achondroplasia (FGFR3 mutation) is a gain-of-function mutation, increasing receptor activity.
Question 2 of 5
The figure below represents the pedigree of a family with neurofibromatosis type 1 with the arrow indicating the proband. This pedigree shows a:
Correct Answer: A
Rationale: NF1 is autosomal dominant. Without the figure, typical AD inheritance is assumed (affected in each generation).
Question 3 of 5
This chromosome is:
Correct Answer: C
Rationale: Without a figure, 'Submetacentric' (C) is accepted as per the document. Rationale: Chromosomes are classified by centromere position. Metacentric has a central centromere, acrocentric has it near one end with a short p-arm, submetacentric is off-center, and telocentric has it at the end. 'Interphase chromosome' isn’t a structural type. Submetacentric is plausible for many human chromosomes (e.g., chromosome 1), making 'C' reasonable without context.
Question 4 of 5
One of the following is true about telomerase:
Correct Answer: D
Rationale: Telomeres consist of TTAGGG repeats throughout (D is true). Rationale: Telomerase uses an RNA template (not DNA, B false), extends the 3’ end (C misleading), and is active in cancer (A false). Activity decreases with age (E false). 'D' fits best.
Question 5 of 5
A female with a flattened face, small head, short neck, protruding tongue, small ears, and a poor muscle tone (hypotonia). She probably has a genetic disorder that's caused by?
Correct Answer: A
Rationale: Trisomy 21 (Down syndrome, A) matches these features. Rationale: Flat face, short neck, hypotonia, etc., are classic Down syndrome signs. Monosomy X (Turner) and Trisomy X have different phenotypes (e.g., short stature vs. subtle effects).