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Article

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.

American journal of medical genetics. Part A - 1 Nov 2014

Snijders Blok Charlotte, Corsten-Janssen Nicole, FitzPatrick David R, Romano Corrado, Fichera Marco, Vitello Girolamo Aurelio, Willemsen Marjolein H, Schoots Jeroen, Pfundt Rolph, van Ravenswaaij-Arts Conny M A, Hoefsloot Lies, Kleefstra Tjitske

Abstract excerpt

Microdeletions of the 5q11.2 region are rare; in literature only two patients with a deletion in this region have been reported so far. In this study, we describe four additional patients and further define this new 5q11.2 microdeletion syndrome. A comparison of the features observed in all six patients with overlapping 5q11.2 deletions showed a phenotypic spectrum that overlaps with CHARGE syndrome and 22q11.2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25251717
DOI: 10.1002/ajmg.a.36680

Genes

DHX29

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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