Kokkonen H, Kähkönen M, Leisti J
Dept. of Clinical Genetics, Oulu University Central Hospital, Finland.
Hum Genet. 1995 May;95(5):568-71. doi: 10.1007/BF00223871.
The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11-q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and molecular techniques. Of the 27 clinically typical PWS patients, 23 (85%) had a molecular deletion that could be classified into four size categories. Only 15 of them (71%) could be detected cytogenetically. Maternal uniparental heterodisomy was observed in four cases. The rest of the patients showed no molecular defects including rare imprinting mutations. In our experience, the use of the methylation test with the probe PW71 (D15S63), together with the probe hN4HS (SNRPN), which distinguishes between a deletion and uniparental disomy, is the method of choice for the diagnosis of PWS.
普拉德-威利综合征（PWS）是一种由父源基因贡献缺失引起的发育障碍，其源于15号染色体区域15q11-q13不同大小的缺失、单亲二体或罕见的印记突变。我们运用细胞遗传学和分子技术研究了41例疑似PWS患者及其父母。在27例临床典型的PWS患者中，23例（85%）存在可分为四类大小的分子缺失。其中仅15例（71%）可通过细胞遗传学检测到。4例观察到母源单亲异二体。其余患者未显示分子缺陷，包括罕见的印记突变。根据我们的经验，使用探针PW71（D15S63）进行甲基化检测，以及使用可区分缺失和单亲二体的探针hN4HS（SNRPN），是诊断PWS的首选方法。
