Gene | Chromosomal Region | Associated syndrome when mutated (m) or duplicated (D) | OMIM Number |
SRY | Yp11 | 46,XY gonadal dysgenesis, Swyer syndrome (M) | 480000 |
SF1 | 9q33 | 46,XY gonadal dysgenesis with adrenal failure | 184757 |
DHH | 12q12-q13.1 | 46,XY gonadal dysgenesis (M) | 605423 |
From Genetics of Sex Determination
There's more to it than having a Y chromosome... or even an SrY complex somewhere.
2 comments:
HI Zoe, What about the OMIM numbers for SOX9 and DAX1 which also cause XY sex reversal with gonadal dysgenesis?
Good point. The science here is advancing so quickly though, I can't blame them for the omission. I'm just keeping it as a reference, because although many people know about SrY, few know the others. And I can never remember the names.
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