Partial disomy of Xp and the presence of SRY in a phenotypic female
Autor: | Maria Alevizaki, C Sinaniotis, Elisabeth Blennow, Aspasia Tsezou, A Galla-Voumvouraki, S Bajalica, Sofia Kitsiou-Tzeli |
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Rok vydání: | 1995 |
Předmět: |
medicine.medical_specialty
X Chromosome Locus (genetics) Chromosomal translocation Biology Y chromosome Cytogenetics Y Chromosome Genetics medicine Humans Genetics (clinical) X chromosome Sex Chromosome Aberrations Infant Nuclear Proteins Karyotype DNA Molecular biology Sex-Determining Region Y Protein Chromosome Banding DNA-Binding Proteins Testis determining factor Phenotype Multigene Family XIST Female Transcription Factors Research Article |
Zdroj: | Journal of medical genetics. 32(12) |
ISSN: | 0022-2593 |
Popis: | 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. |
Databáze: | OpenAIRE |
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