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Article

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.

BMC pediatrics - 6 Dec 2010

Wozniak Anna, Wolnik-Brzozowska Danuta, Wisniewska Marzena, Glazar Renata, Materna-Kiryluk Anna, Moszura Tomasz, Badura-Stronka Magdalena, Skolozdrzy Joanna, Krawczynski Maciej R, Zeyland Joanna, Bobkowski Waldemar, Slomski Ryszard, Latos-Bielenska Anna, Siwinska Aldona

Abstract excerpt

BACKGROUND: The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of this study was to...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heart Septal Defects, Atrial

Share to Heart Septal Defects, Ventricular

Share to Infant, Newborn

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Source

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Identifiers

PMID: 21134246
DOI: 10.1186/1471-2431-10-88
PMCID: PMC3016365

Genes

HIRA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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