title: Partial disomy of Xp and the presence of SRY in a phenotypic female.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Bajalica
authors.forename: E
authors.initials: E
authors.lastname: Blennow
authors.forename: A
authors.initials: A
authors.lastname: Tşezou
authors.forename: A
authors.initials: A
authors.lastname: Galla-Voumvouraki
authors.forename: M
authors.initials: M
authors.lastname: Alevizaki
authors.forename: C
authors.initials: C
authors.lastname: Sinaniotis
authors.forename: S
authors.initials: S
authors.lastname: Kitsiou-Tzeli
mesh_terms: 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*
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D004247:DNA