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Article

Detailed analysis of 22q11.2 with a high density MLPA probe set.

Human mutation - 1 Mar 2008

Jalali G R, Vorstman J A S, Errami Ab, Vijzelaar R, Biegel J, Shaikh T, Emanuel B S

Abstract excerpt

The presence of chromosome-specific low-copy repeats (LCRs) predisposes chromosome 22 to deletions and duplications. The current diagnostic procedure for detecting aberrations at 22q11.2 is chromosomal analysis coupled with fluorescence in situ hybridization (FISH) or PCR-based multiplex ligation...

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Identifiers

PMID: 18033723
DOI: 10.1002/humu.20640
PMCID: PMC2664158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18033723-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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