PROBABLE DENOVO 17Q DUPLICATION (Q11.2-]Q21.1) - A NEWLY RECOGNIZED CHROMOSOMAL SYNDROME IN A CHILD WITH KLINEFELTERS-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.