一名9p综合征重复患儿中9p22至p24的直接重复。
Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome.
作者信息
Fujimoto A, Lin M S, Schwartz S
机构信息
Department of Pediatrics, Los Angeles County-University of Southern California Medical Center, and University of Southern California School of Medicine, 90033, USA.
出版信息
Am J Med Genet. 1998 May 26;77(4):268-71.
A de novo direct duplication of 9p22-->p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13-9p23 region. The breakpoints in this patient and previously reported patients suggest that 9p22 may be the critical region for duplication 9p syndrome.
通过GTG显带和荧光原位杂交（FISH），使用9号染色体特异性涂染探针以及定位在9p13 - 9p23区域的6个酵母人工染色体（YAC）DNA探针，在一名具有9p重复表型的儿童中发现了9p22→p24的从头直接重复。该患者及先前报道患者的断点表明，9p22可能是9p重复综合征的关键区域。
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