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Article

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.

Scientific reports - 6 Jan 2017

Vergés Laia, Vidal Francesca, Geán Esther, Alemany-Schmidt Alexandra, Oliver-Bonet Maria, Blanco Joan

Abstract excerpt

DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the number of tandem repeat blocks in LCR22 in two DGS/VCFS...

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

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Share to Histone-Lysine N-Methyltransferase

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Share to Repetitive Sequences, Nucleic Acid

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Source

Open in PubMed Open full text

Identifiers

PMID: 28059126
DOI: 10.1038/srep40031
PMCID: PMC5216377

Genes

PRDM9

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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