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Article

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

European journal of medical genetics - 1 Nov 2012

Portnoï Marie-France, Chantot-Bastaraud Sandra, Christin-Maitre Sophie, Carbonne Bruno, Beaujard Marie-Paule, Keren Boris, Lévy Jonathan, Dommergues Marc, Cabrol Sylvie, Hyon Capucine, Siffroi Jean-Pierre

Abstract excerpt

Spontaneous fertility is rare among patients with Turner syndrome and is most likely in women with mosaicism for a normal 46,XX cell line. We report an unusual case of familial Turner syndrome with mosaicism for a novel X;Y translocation involving Xp and Yp. The chromosomal analysis was carried out through cytogenetics and molecular karyotyping using a SNP array platform. The mother, a Turner syndrome woman,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22809487
DOI: 10.1016/j.ejmg.2012.07.001

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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