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Partial disomy of Xp and the presence of SRY in a phenotypic female.
  1. S Bajalica,
  2. E Blennow,
  3. A Tşezou,
  4. A Galla-Voumvouraki,
  5. M Alevizaki,
  6. C Sinaniotis,
  7. S Kitsiou-Tzeli
  1. Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.


    We present a study of a mentally retarded and mildly dysmorphic female in whom initial cytogenetic studies identified the karyotype 46,X, + mar. 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 segment included the SRY and ZFY genes. Based on these findings, the karyotype was defined as 46, X,der(Y)t(X;Y) (p21.1;q11). This case illustrates male to female sex reversal owing to a partial duplication of the short arm of the X chromosome in the presence of SRY.

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