RT Journal Article
SR Electronic
T1 Partial disomy of Xp and the presence of SRY in a phenotypic female.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 987
OP 990
DO 10.1136/jmg.32.12.987
VO 32
IS 12
A1 Bajalica, S
A1 Blennow, E
A1 Tşezou, A
A1 Galla-Voumvouraki, A
A1 Alevizaki, M
A1 Sinaniotis, C
A1 Kitsiou-Tzeli, S
YR 1995
UL http://jmg.bmj.com/content/32/12/987.abstract
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.