Ascertainment and mutational studies of SRY in nine XY females

Abstract:

Several causes for the occurrence of 46, XY females have been described. Obviously, mutations in SRY are one cause of such maldevelopment. Most of the mutations in SRY have been found in the High Mobility Group (HMG) box (the conserved DNA-binding region). Exceptions include deletions more than 1.7 kb 5 and 2–3 kb 3 to the coding region [McElreavey et al., 1992, 1996] and one potential promoter mutation [Kwok et al., 1996]. We searched for mutations in SRY in 9 46, XY patients. These included patients in whom malformation was the indication for a karyotype and in whom the finding of 46, XY was unexpected (Table I). Other patients had a chromosome study because sexual ambiguity (slight clitoromegaly has been described with a mutation in SRY; Schmitt-Ney et al.[1995]), or suspected gonadal dysgenesis. In one juvenile patient, a chromosome analysis was performed when an autopsy disclosed …

Año de publicación:

1999

Keywords:

Fuente:

google