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, + 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.
Bajalica
S
S
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Blennow
E
E
Tşezou
A
A
Galla-Voumvouraki
A
A
Alevizaki
M
M
Sinaniotis
C
C
Kitsiou-Tzeli
S
S
D002871:Chromosome Banding; D003582:Cytogenetics; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D005810:Multigene Family / Q000235:genetics*; D009687:Nuclear Proteins; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA