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Clin Dysmorphol. 2006 Oct;15(4):221-3.

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

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Cheshire and Merseyside Medical Genetics Service, Department of Clinical Genetics, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK.


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.

[Indexed for MEDLINE]

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