Unusual phenotype in partial trisomy 14

An 8-year-old boy with partial trisomy 14q and phenotype distinct from prev iously reported cases is described. The mother carries a balanced 9;14 reci procal translocation. The patient presented with minor facial anomalies, de velopmental delay, hyperphagia, and obesity. Imprinting of maternal chromos ome 14 or disruption of one or more genes on chromosome 9 may be responsibl e for our patient's manifestations. (C) 1999 Wiley-Liss, Inc.