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Article

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.

Journal of medical genetics - 1 Aug 2009

Grisart B, Willatt L, Destrée A, Fryns J-P, Rack K, de Ravel T, Rosenfeld J, Vermeesch J R, Verellen-Dumoulin C, Sandford R

Abstract excerpt

BACKGROUND: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. METHOD: Patients with the 17q21.31 duplication were identified by screening a large cohort of patients (n = 13,070) with mental retardation and congenital malformation by comparative genomic hybridisation microarray. Parental origin was...

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Source

Identifiers

PMID: 19502243
DOI: 10.1136/jmg.2008.065367

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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