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Pediatrics Genetic and genetic disorders 453a10d5

A down syndrome child is mentally retarded. All cytogenetic abnormalities may occurs except ?

A
Deleted 21
B
Trisomy 21
C
Robesonia translocation
D
Mosaic
High-Yield Explanation
In approximately 95% cases down syndrome is due to presence of 3 copies of chromosome 21. Approximately 1% cases with trisomy 21 are mosaics . Another 4% have a translocation that involves chromosome 21. Majority of translocation are fusions at the centromere between chromosome 13,14,15,21, and 22 known as robesonial translocation. Reference : Nelson TB of pediatrics edition 19 pg 402.

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