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Article

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

Cytogenetic and genome research - 1 Jan 2009

Sharkey F H, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson A P

Abstract excerpt

Microdeletions of the 17q21.31 region are associated with hypotonia, oromotor dyspraxia, an apparently characteristic face, moderate learning disability and have an estimated prevalence of approximately 1 in 16,000. Here we report 3 individuals who extend further the phenotypic spectrum observed...

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Share to Abnormalities, Multiple
Share to Child, Preschool
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 20110647
DOI: 10.1159/000279260

Genes

CRHR1
MAPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20110647-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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