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.
HI Zoe, What about the OMIM numbers for SOX9 and DAX1 which also cause XY sex reversal with gonadal dysgenesis?
ReplyDeleteGood 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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