| Literature DB >> 7726236 |
M López1, L Torres, J P Méndez, A Cervantes, G Alfaro, G Pérez-Palacios, R P Erickson, S Kofman-Alfaro.
Abstract
Most individuals with the rare 46,XX male "syndrome" arise due to an unequal interchange between Xp and Yp termini during paternal meiosis. The pattern of Y-sequences in these patients varies considerably, but very few cases have been reported showing only SRY. The phenotype in these patients is also variable ranging from severe impairment of the external genitalia through hypospadias and/or cryptorchidism to occasional normal male phenotype. We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. We conclude that in this case SRY alone was enough for complete male sexual differentiation.Entities:
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Year: 1995 PMID: 7726236 DOI: 10.1002/ajmg.1320550321
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299