| Autor: |
Ramos ES; Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brazil., Moreira-Filho CA, Vicente YA, Llorach-Velludo MA, Tucci S Jr, Duarte MH, Araújo AG, Martelli L |
| Jazyk: |
angličtina |
| Zdroj: |
Human genetics [Hum Genet] 1996 May; Vol. 97 (5), pp. 596-8. |
| DOI: |
10.1007/BF02281867 |
| Abstrakt: |
Two 46,XX true hermaphrodites and one XX male without genital ambiguities are reported. They coexist in two generations of the same pedigree, with paternal transmission and in the absence of SRY (sex-determining region, Y chromosome). These familial cases provide evidence to support the hypothesis that these disorders are alternative manifestations of the same genetic defect, probably an autosomal dominant mutation (with incomplete penetrance) or an X-linked mutation (limited by the presence of the Y chromosome). |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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