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Article

The use of two different MLPA kits in 22q11.2 deletion syndrome.

European journal of medical genetics - 1 Apr 2016

Evers L J M, Engelen J J M, Houben L M H, Curfs L M G, van Amelsvoort T A M J

Abstract excerpt

22q11.2 deletion syndrome (22q11DS) is one of the most common recurrent copy-number variant disorder, caused by a microdeletion in chromosome band 22q11.2 and occurring with a population prevalence of 1 in 2000. Until today there has been no evidence that the size of the deletion has an influence on the clinical phenotype. Most studies report that 22q11DS is associated with mild or borderline intellectual...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Multiplex Polymerase Chain Reaction

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Share to Reagent Kits, Diagnostic

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Identifiers

PMID: 26921528
DOI: 10.1016/j.ejmg.2016.02.009
PMCID: PMC4820537

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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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