Details

Autor(en) / Beteiligte

• MCELREAVEY, K
• RAPPAPORT, R
• TEMTAMY, S
• NIHOUL-FEKETE, C
• BRAUNER, R
• FELLOUS, M
• VILAIN, E
• ABBAS, N
• RICHAUD, F
• LORTAT-JACOB, S
• BERGER, R
• LECONIAT, M
• BOUCEKKINE, C
• KUCHERIA, K

Titel

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

Ist Teil von

• Human genetics, 1992-09, Vol.90 (1-2), p.121-125

Ort / Verlag

Heidelberg: Springer

Erscheinungsjahr

1992

Link zum Volltext

Quelle

SpringerLink Journals

Beschreibungen/Notizen

• A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.