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Article

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

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

Avila Magali, Kirchhoff Maria, Marle Nathalie, Hove Hanna D, Chouchane Mondher, Thauvin-Robinet Christel, Masurel Alice, Mosca-Boidron Anne-Laure, Callier Patrick, Mugneret Francine, Kjaergaard Susanne, Faivre Laurence

Abstract excerpt

We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridging/trigonocephaly, developmental delay, epicanthal folds, and short hands. The duplication comprised the ASXL1 gene,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23704076
DOI: 10.1002/ajmg.a.35970

Genes

ASXL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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