PT  - JOURNAL ARTICLE
AU  - Bajalica, S
AU  - Blennow, E
AU  - Tşezou, A
AU  - Galla-Voumvouraki, A
AU  - Alevizaki, M
AU  - Sinaniotis, C
AU  - Kitsiou-Tzeli, S
TI  - Partial disomy of Xp and the presence of SRY in a phenotypic female.
AID  - 10.1136/jmg.32.12.987
DP  - 1995 Dec 01
TA  - Journal of Medical Genetics
PG  - 987--990
VI  - 32
IP  - 12
4099  - http://jmg.bmj.com/content/32/12/987.short
4100  - http://jmg.bmj.com/content/32/12/987.full
SO  - J Med Genet1995 Dec 01; 32
AB  - 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.