Murdock R L, Wurster-Hill D H
Am J Med Genet. 1986 Sep;25(1):61-9. doi: 10.1002/ajmg.1320250108.
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.
在一名28岁、智力严重发育迟缓的州立机构男性居民中发现了一种非相互易位(5;15)和一个等臂双着丝粒(15),导致15号染色体短臂1区至15号染色体长臂1区3带三体性以及5号染色体长臂末端单体性[46,XY,-5,-15,+der(5)t(5;15)(5号染色体短臂末端至5号染色体长臂35带::15号染色体长臂1区3带至15号染色体长臂末端),+idic(15)(短臂末端至长臂1区3带::长臂1区3带至短臂末端)]。其早期发育史以及儿童期和成年期的体格检查结果与普拉德-威利综合征(PWS)患者相似。父母未显带的染色体正常。父母及先证者的血型对于确定基因缺失或重复并无参考价值。