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Article

Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.

American journal of medical genetics. Part A - 1 Oct 2021

Blanluet Maud, Chantot-Bastaraud Sandra, Chambon Pascal, Cassinari Kévin, Vera Gabriella, Goldenberg Alice, Keren Boris, Le Meur Nathalie, Hannequin Didier, Mace Bertrand, Siffroi Jean-Pierre, Frebourg Thierry, Nicolas Gaël, Joly-Helas Géraldine

Abstract excerpt

Balanced translocations are associated with a risk of transmission of unbalanced chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities are typically non-mosaic as they are present in the germline. We report the recurrence in two siblings of a mosaicism for a chromosomal rearrangement inherited from their asymptomatic father who carried a balanced t(2;11)(q35;q25) translocation....

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PMID: 34043868
DOI: 10.1002/ajmg.a.62361

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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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