Masuno M, Imaizumi K, Nakamura M, Matsui K, Goto A, Kuroki Y
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Am J Med Genet. 1995 Dec 4;59(4):441-3. doi: 10.1002/ajmg.1320590409.
We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17) (q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, parental diagnosis using FISH is feasible.
我们报告了一名3个月大的患有米勒-迪克尔综合征的女孩，其病因是母亲存在一个完全隐匿性易位t(10;17) (q26.3;p13.3)，仅通过荧光原位杂交（FISH）才能检测到。对于17p13.3存在亚显微缺失的米勒-迪克尔综合征病例，采用FISH进行亲代研究对遗传咨询至关重要。在一个存在亲代隐匿性易位且复发风险高的家庭中，采用FISH进行亲代诊断是可行的。
