Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome. Issue 5 (May 1993)

• Record Type: Journal Article
• Authors: Butt, A M; Mehta, D; Goodeve, J A; Flinter, F A
• Is Part Of: Journal of medical genetics. Volume 30:Issue 5(1993)
• Page Start: 436
• Page End: 437
• Publication Date: 1993-05
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.30.5.436
• Languages: English
• ISSNs: 1468-6244

Abstract

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.