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Biochemistry · Genetics: genomic imprinting
Sample itemWhich disorder can arise from loss of paternal gene expression on chromosome 15?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Prader-Willi syndrome
Prader-Willi syndrome results from loss of paternally expressed genes in the chromosome 15q11-q13 region. Angelman syndrome results from loss of maternal expression in the same region.
Option by option
A. Prader-Willi syndrome (correct)
Correct. Paternal-expression loss produces Prader-Willi syndrome.
B. Klinefelter syndrome
Klinefelter syndrome is usually 47,XXY.
C. Angelman syndrome
Angelman reflects maternal-expression loss.
D. Turner syndrome
Turner syndrome is monosomy X.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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