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Article

Screening of patients at risk for 22q11 deletion.

Collegium antropologicum - 1 Mar 2008

Barisić Ingeborg, Morozin Pohovski Leona, Petković Iskra, Cvetko Zeljko, Stipancić Gordana, Bagatin Marijo

Abstract excerpt

UNLABELLED: The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized diagnostic workup for selected groups of at risk patients. We prospectively investigated four cohorts of unselected patients referred because of 1) congenital heart defect (CHD), 2) palatal anomalies, 3) hypocalcaemia, 4) dysmorphic features suggestive of del 22q11.2. Fluorescence in situ...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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PMID: 18494202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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