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Article

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

European journal of medical genetics - 1 Jan 2000

Lehman Anna M, Friedman Jan M, Chai David, Zahir Farah R, Marra Marco A, Prisman Larraine, Tsang Erica, Eydoux Patrice, Armstrong Linlea

Abstract excerpt

This report describes a 4 year-old girl with history of hypotonia, developmental delay, and failure to thrive in infancy. She has cognitive impairment and multiple congenital anomalies, including Duane anomaly, Mondini malformation with associated deafness, external ear malformations, and atrial and ventricular septal defects. Array comparative genomic hybridization demonstrated a de novo tandem 6.9 Mb...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19772954
DOI: 10.1016/j.ejmg.2009.09.006

Genes

CHD7

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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