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Pediatrics Genetics of Common Disorders 785e2625

Down syndrome - all are seen except -

A
t (14; 21)
B
t (11: 14)
C
Trisomy 21
D
t (15: 21)
High-Yield Explanation
Ans. is 'b' i.e., t (11: 14) o In 95% of cases of Down syndrome-trisomy of 21:-Extra chromosome is of maternal in origin.1% have mosaic with some all have 46 chromosome, a 4% have robertsonian translocation.t (13 : 21)t (14 : 21)t (15 : 21)o Very rarely tong arm of chromosome 21 is triplicate (Partial trisomy).

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