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Article

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.

European journal of medical genetics - 1 Feb 2022

Mary Laura, Lavillaureix Alinoë, Perrot Adélie, Loget Philippe, Launay Erika, Leborgne Anne-Sophie, Demurger Florence, Fradin Mélanie, Le Bouar Gwenaelle, Quélin Chloé, Dubourg Christèle, Pasquier Laurent, Odent Sylvie, Belaud-Rotureau Marc-Antoine, Jaillard Sylvie

Abstract excerpt

The 22q11 region is prone to generating recurring Copy Number Variations (CNVs) as a result of the large numbers of Low Copy Repeats (LCRs). Typical duplications encompass the LCR-A-to-D region but atypical duplications of various sizes have also been reported. These duplications are responsible for highly variable phenotypes with incomplete penetrance and expressivity, which is challenging for adequate genetic...

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Identifiers

PMID: 35026468
DOI: 10.1016/j.ejmg.2022.104422

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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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