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Article

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

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

Brown Natasha, Burgess Trent, Forbes Robin, McGillivray George, Kornberg Andrew, Mandelstam Simone, Stark Zornitza

Abstract excerpt

The 5q31.3 microdeletion syndrome has recently emerged as a distinct clinical entity, and we report two new patients with de novo deletions of this region, bringing the total to seven. Similarly to previously reported cases, the phenotype of our patients is characterized by marked hypotonia, apnea, developmental delay, and feeding difficulties. Both patients had abnormal movements which did not correlate with...

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PMID: 23950017
DOI: 10.1002/ajmg.a.36108

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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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