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J Med Genet. 1993 May;30(5):436-7.

Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome.

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1
Department of Paediatrics, Guy's Hospital, London, UK.

Abstract

A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut, malabsorption, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac and CNS abnormalities. The coexistence of Klinefelter's syndrome (47,XXY) is of minor significance in relation to this child's phenotype.

PMID:
8320713
PMCID:
PMC1016388
[Indexed for MEDLINE]
Free PMC Article
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