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Article

Constitutional telomeric association (Y;7) in a patient with a female phenotype.

American journal of medical genetics. Part A - 1 Jun 2013

Beneteau Claire, Baron Sabine, David Albert, Jossic Frédérique, Poulain Damien, Schmitt Sébastien, Leclair Marc-David, Piloquet Philippe, Le Caignec Cédric

Abstract excerpt

Telomeric associations (TAs) are fusions between two telomeres of two different chromosomes without visible loss of chromosomal material. Constitutional telomeric associations are rare chromosomal anomalies. We report on the cytogenetic and molecular analyses of a TA involving chromosomes Y and 7...

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Share to Chromosome Banding
Share to Chromosomes, Human, Pair 7
Share to Chromosomes, Human, Y

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Gonadal Dysgenesis

Share to Karyotype

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Source

Identifiers

PMID: 23613342
DOI: 10.1002/ajmg.a.35889

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23613342-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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