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Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome

✍ Scribed by Murdock, Rosamond L. ;Wurster-Hill, Doris H. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
534 KB
Volume
25
Category
Article
ISSN
0148-7299

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✦ Synopsis

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-t5q35:: 15q13-t lfiqter), +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.

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