伴有15/3易位的普拉德-威利综合征。
The Prader-Willi syndrome with a 15/3 translocation.
作者信息
Kucerová M, Straková M, Polívková Z
出版信息
J Med Genet. 1979 Jun;16(3):234-5.
Abstract
A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.
摘要
在一名患有普拉德-威利综合征（严重智力发育迟缓、言语不清、隐睾症和肌张力减退）的5岁男孩的外周淋巴细胞上，通过胰蛋白酶显带检测到15号染色体长臂向3号染色体短臂的新生易位，伴有15号染色体短臂完全单体性和15号染色体长臂部分单体性。本文讨论了15号染色体异常在该综合征病因学中的致病作用。
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