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Article

Interstitial deletion of the short arm of chromosome 2 in a mother and child, with facial dysmorphism and mild learning difficulties.

Clinical dysmorphology - 1 Oct 2006

Armstrong Ruth, Ellis Ian, Kightley Catherine, Sethi Vijay Dinanadh, McCarthy Emma, Maye Una, White Gillian

Abstract excerpt

We report a mother and son with an interstitial deletion of chromosome 2: del(2)(p21p22.2). Both have mildly dysmorphic facial features and learning difficulties. This phenotype contrasts with two previously described cases with a similar deletion that presented with cyclopia and alobar holoprosencephaly.

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Identifiers

PMID: 16957477
DOI: 10.1097/01.mcd.0000220620.85896.0f

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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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