Hawkey C J, Smithies A
J Med Genet. 1976 Apr;13(2):152-7. doi: 10.1136/jmg.13.2.152.
A case, diagnosed clinically as the Prader-Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosme abnormalities in the Prader-Willi syndrome most commonly involve the D group. The significance of this would be clarified by specific chromosome identification in these patients.
一例临床上诊断为普拉德-威利综合征的病例,经吉姆萨显带显示有15/15染色体易位。文献回顾表明,这种易位此前仅在一名正常女性中被描述过一次,但普拉德-威利综合征中的染色体异常最常涉及D组。通过对这些患者进行特定染色体鉴定,这一情况的意义将得以阐明。