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Article

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

American journal of medical genetics. Part A - 15 Feb 2009

Lugtenberg Dorien, de Brouwer Arjan P M, Oudakker Astrid R, Pfundt Rolph, Hamel Ben C J, van Bokhoven Hans, Bongers Ernie M H F

Abstract excerpt

In a man with severe mental retardation, minor facial and genital anomalies, disproportionate short stature and a broad thorax, we identified a de novo Xq13.2q21.1 duplication by array CGH. This 7 Mb duplication encompasses 23 known genes, including the X-linked mental retardation (XLMR) genes ATRX and SLC16A2. The phenotype of this patient is similar to that described in more than 10 previously reported patients...

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Share to Aneuploidy
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Craniofacial Abnormalities

Share to Gene Duplication

Share to Genitalia, Male

Share to X-Linked Intellectual Disability

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Source

Identifiers

PMID: 19291773
DOI: 10.1002/ajmg.a.32742

Genes

ATRX

Provenance

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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Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.PMID 19291773Read ↗

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