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Article

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

American journal of medical genetics. Part A - 1 Sept 2010

Devillard Françoise, Guinchat Vincent, Moreno-De-Luca Daniel, Tabet Anne-Claude, Gruchy Nicolas, Guillem Pascale, Nguyen Morel Marie-Ange, Leporrier Nathalie, Leboyer Marion, Jouk Pierre-Simon, Lespinasse James, Betancur Catalina

Abstract excerpt

We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at...

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Source

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Identifiers

PMID: 20684015
DOI: 10.1002/ajmg.a.33601
PMCID: PMC4906125

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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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