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Article

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

European journal of medical genetics - 1 Feb 2012

Moutton Sébastien, Rooryck Caroline, Toutain Jérôme, Cailley Dorothée, Bouron Julie, Villega Frédéric, Taupiac Emmanuelle, Lacombe Didier, Arveiler Benoît, Goizet Cyril

Abstract excerpt

We report a 19 year-old patient carrying a terminal 20p microdeletion. She displayed clinical features resembling those of two other previously described patients. We suggest that a specific phenotype can be associated with this chromosomal anomaly. Mental retardation, epilepsy, and dysmorphic signs including low-set ears and overfolded helices seem highly characteristic of this syndrome and may define major...

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Share to Chromosomes, Human, Pair 20
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium-Binding Proteins

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Source

Identifiers

PMID: 22274139
DOI: 10.1016/j.ejmg.2011.12.009

Genes

JAG1

Provenance

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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Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?PMID 22274139Read ↗

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