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Article

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.

BMC medical genetics - 5 May 2011

Frigerio Marcello, Passeri Elena, de Filippis Tiziana, Rusconi Daniela, Valaperta Rea, Carminati Mario, Donnangelo Anita, Costa Elena, Persani Luca, Finelli Palma, Corbetta Sabrina

Abstract excerpt

BACKGROUND: 22q11.2 microdeletion is responsible for the DiGeorge Syndrome, characterized by heart defects, psychiatric disorders, endocrine and immune alterations and a 1 in 4000 live birth prevalence. Real-time quantitative PCR (qPCR) approaches for allelic copy number determination have recently been investigated in 22q11.2 microdeletions detection. The qPCR method was performed for 22q11.2 microdeletions...

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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 Comparative Genomic Hybridization

Share to DiGeorge Syndrome

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Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

Source

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Identifiers

PMID: 21545739
DOI: 10.1186/1471-2350-12-61
PMCID: PMC3112071

Genes

VPREB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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