| Autor: |
N, Abbas, J, Toublanc, R, Rappaport, C, Fekete-Nihoul, C, Boucekine, H, Chabouni, M, Fellous |
| Jazyk: |
francouzština |
| Rok vydání: |
1991 |
| Předmět: |
|
| Zdroj: |
Bulletin de l'Association des anatomistes. 75(228) |
| ISSN: |
0376-6160 |
| Popis: |
We have analyzed 40 cases of human XX male or XX true hermaphrodites negative for Y DNA sequences including ZFY. Among these patients we were able to demonstrate the existence of at least 3 mechanisms. 1) In one case a mosaïscism 46XY/46XX is limited to the gonad and only detected by PCR. 2) Familial cases compatible with the mutation of an autosomal (or pseudo-autosomal) down stream sex determining gene. 3) We finally observed 5 cases lacking ZFY meanwhile carrying Y specific sequences near to the pseudo-autosomal boundary, redifining the region where TDF must lie. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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