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Article

Partial disomy of Xp and the presence of SRY in a phenotypic female.

Journal of medical genetics - 1 Dec 1995

Bajalica S, Blennow E, Tşezou A, Galla-Voumvouraki A, Alevizaki M, Sinaniotis C, Kitsiou-Tzeli S

Abstract excerpt

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...

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Source

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Identifiers

PMID: 8825932
DOI: 10.1136/jmg.32.12.987
PMCID: PMC1051785

Genes

SRY
DMD
ZFY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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