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Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome
American Journal of Medical Genetics
|September 1, 1986
Abstract:
A non-reciprocal translocation (5;15) and an isodicentric (15) resulting in trisomy 15pter----15q1?3 and monosomy 5qter [46,XY,-5,-15,+der(5)t(5;15) (5pter----5q35::15q13----15qter),+idic(15) (pter----q1?3::q1?3----pter)] was found in a 28-year-old profoundly retarded male resident of a state institution. Early developmental history and childhood and adult physical findings resembled those of Prader-Willi syndrome (PWS) patients. The parents' unbanded chromosomes were normal. Blood groups of parents and propositus were uninformative with regard to identifying gene deletions or duplications.