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Article

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Congenital heart disease - 1 Jan 2000

Goldmuntz Elizabeth, Paluru Prasuna, Glessner Joseph, Hakonarson Hakon, Biegel Jaclyn A, White Peter S, Gai Xiaowu, Shaikh Tamim H

Abstract excerpt

OBJECTIVE: Multiple genetic syndromes are caused by recurrent chromosomal microdeletions or microduplications. The increasing use of high-resolution microarrays in clinical analysis has allowed the identification of previously undetectable submicroscopic copy number variants (CNVs) associated with genetic disorders. We hypothesized that patients with congenital heart disease and additional dysmorphic features or...

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Share to Abnormalities, Multiple
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

Share to Infant, Newborn

Share to Oligonucleotide Array Sequence Analysis

Source

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Identifiers

PMID: 22010865
DOI: 10.1111/j.1747-0803.2011.00582.x
PMCID: PMC4575121

Genes

ADAM19
HAND1
MESP1
NRP1
NTRK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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