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Article

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

American journal of medical genetics. Part A - 1 Feb 2015

Lévy Jonathan, Receveur Aline, Jedraszak Guillaume, Chantot-Bastaraud Sandra, Renaldo Florence, Gondry Jean, Andrieux Joris, Copin Henri, Siffroi Jean-Pierre, Portnoï Marie-France

Abstract excerpt

Mosaicism for an autosomal structural rearrangement that does not involve ring or marker chromosomes is rare. The mechanisms responsible for genome instability have not always been explained. Several studies have shown that interstitial telomeric sequences (ITSs), involved in some mosaic constitutional anomalies, are potent sources of genomic instability. Here we describe two cases of mosaicism for uncommon...

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PMID: 25428228
DOI: 10.1002/ajmg.a.36857

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

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