Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome.
AUTOR(ES)
Butt, A M
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016388Documentos Relacionados
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