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Article

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

American journal of medical genetics. Part A - 1 Aug 2009

Digilio Maria Cristina, Bernardini Laura, Mingarelli Rita, Capolino Rossella, Capalbo Anna, Giuffrida Maria Grazia, Versacci Paolo, Novelli Antonio, Dallapiccola Bruno

Abstract excerpt

The 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray-based technology. The phenotype of the reported patients is variable, including mental retardation and subtle facial anomalies. We report on two mother-daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 19610115
DOI: 10.1002/ajmg.a.32965

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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