Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome.
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.
Butt
A M
AM
Department of Paediatrics, Guy's Hospital, London, UK.
Mehta
D
D
Goodeve
J A
JA
Flinter
F A
FA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D005147:Facial Bones / Q000002:abnormalities; D005183:Failure to Thrive / Q000235:genetics; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy