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Article

An additional patient with 3q27.3 microdeletion syndrome.

Journal of child neurology - 1 Mar 2015

Castori Marco, Bottillo Irene, Laino Luigi, Morlino Silvia, Grammatico Barbara, Grammatico Paola

Abstract excerpt

The 3q27.3 microdeletion syndrome has been recently delineated in 7 subjects from 5 families sharing a 1.4 Mb smallest region of overlap. This condition appears recognizable by the association of Marfanoid habitus, mild but distinctive facial dysmorphism, intellectual disability, psychosis, and mood disorder. Here, we describe an additional 17-year-old man with an ~7.7-Mb deletion encompassing the 3q27.3...

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Source

Identifiers

PMID: 25038125
DOI: 10.1177/0883073814539557

Genes

AHSG
OPA1

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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