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Article

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case.

Reproduction, fertility, and development - 1 Oct 2014

Bispo Adriana Valéria Sales, Burégio-Frota Pollyanna, Oliveira dos Santos Luana, Leal Gabriela Ferraz, Duarte Andrea Rezende, Araújo Jacqueline, Cavalcante da Silva Vanessa, Muniz Maria Tereza Cartaxo, Liehr Thomas, Santos Neide

Abstract excerpt

Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genitalia, Female

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Share to Translocation, Genetic

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Source

Identifiers

PMID: 25294360
DOI: 10.1071/RD13207

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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