Non‐reciprocal translocation (5;15), isodicentric (15) and Prader‐Willi syndrome
- 1 September 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (1) , 61-69
- https://doi.org/10.1002/ajmg.1320250108
Abstract
A non‐reciprocal translocation (5;15) and an isodicentric (15) resulting in trisomy 15pter→15ql?3 and monosomy 5qter [46,XY,−5,−15,+der(5)t(5;l5)(5pter→5q35::15q13→15qter),+idic(15)(pter→ql?3::ql?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.Keywords
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