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Article

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

European journal of medical genetics - 1 Jan 2000

Bretelle Florence, Beyer Laura, Pellissier Marie Christine, Missirian Chantal, Sigaudy Sabine, Gamerre Marc, D'Ercole Claude, Philip Nicole

Abstract excerpt

Microdeletion of chromosome 22q11.2, the most common human deletion syndrome encompasses a wide spectrum of abnormalities. Many clinical or ultrasonographic findings may support deletion studies, either in utero or in the post-natal period. The objective of our study was to evaluate the circumstances of 22q11.2 deletion diagnosis in a single centre of genetics during a 12 years period. Testing for 22q11.2...

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Share to Aneuploidy
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

Share to Heart Defects, Congenital

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Share to Pregnancy

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Source

Identifiers

PMID: 20659598
DOI: 10.1016/j.ejmg.2010.07.008

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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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