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Pediatrics Genetic and genetic disorders 52ea0962

The karyotope in testicular feminising syndrome is ?

A
XX
B
XY
C
XXY
D
XXXY
High-Yield Explanation
Testicular feminising syndrome or androgen insensitivity syndrome is an X linked disorder of androgen action. It is characterised by resistance to androgens. Its karyotype is 46,XY. Pathology Affected individuals are genotypically male with a 46XY karyotype but with a female phenotype ( Genetics Thought to carry an X linked recessive inheritance 3 where multiple mutations in the androgen receptor (AR) gene has been localized to the long arm of the X chromosome (i.e. Xq11-13). Reference: Ghai TB of pediatrics 8th edition,pg 538 table 17.32

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