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Article

Cardiac evaluation of patients with 22q11.2 duplication syndrome.

American journal of medical genetics. Part A - 1 Mar 2021

Butensky Adam, de Rinaldis Chiara Pandolfi, Patel Shrey, Edman Sharon, Bailey Alice, McGinn Daniel E, Zackai Elaine, Crowley T Blaine, McDonald-McGinn Donna M, Min Jungwon, Goldmuntz Elizabeth

Abstract excerpt

The 22q11.2 duplication syndrome (22q11.2DupS) is characterized by phenotypic heterogeneity, from seemingly asymptomatic to severely affected patients. Our study sought to detail the cardiac phenotype associated with 22q11.2DupS, the prevalence of aortic arch anomalies and aortic root dilation in 22q11.2DupS, and to assess how frequently new congenital heart disease (CHD) is diagnosed at outpatient cardiac...

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Share to Abnormalities, Multiple
Share to Aorta, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

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Share to Chromosomes, Human, Pair 22

Share to DiGeorge Syndrome

Share to Heart Defects, Congenital

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Source

Identifiers

PMID: 33369133
DOI: 10.1002/ajmg.a.62032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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