一名患有鲁宾斯坦-泰比综合征的日本患者染色体区域16p13.3的亚显微缺失
Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.
作者信息
Masuno M, Imaizumi K, Kurosawa K, Makita Y, Petrij F, Dauwerse H G, Breuning M H, Kuroki Y
机构信息
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
出版信息
Am J Med Genet. 1994 Dec 1;53(4):352-4. doi: 10.1002/ajmg.1320530409.
PMID:7864045
Abstract
In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding.
摘要
在一组25例患有鲁宾斯坦-泰比综合征的日本患者中，我们通过高分辨率GTG显带技术以及用黏粒探针（RT1，D16S237）进行荧光原位杂交，筛查与该综合征相关的微缺失。在1例患者中，通过原位杂交证实存在微缺失，但高分辨率显带未检测到任何微缺失。
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