PARTIAL DISOMY OF XP AND THE PRESENCE OF SRY IN A PHENOTYPIC FEMALE

We present a study of a mentally retarded and mildly dysmorphic female in whom initial cytogenetic studies identified the karyotype 46,X,+ma r. Further characterisation of the structurally abnormal chromosome by fluorescence in situ hybridisation (FISH) showed that it is composed of both X and Y chromosome material with a centromere originating from the Y chromosome. The presence of the DMD gene and the absence of the XIST gene was shown by FISH using locus specific probes. The Y segmen t included the SRY and ZFY genes. Based on these findings, the karyoty pe was defined as 46, X,der(Y)t(X;Y) (p21.1;q11). This case illustrate s male to female sex reversal owing to a partial duplication of the sh ort arm of the X chromosome in the presence of SRY.