通过荧光原位杂交（FISH）分析的涉及五个断点且伴有先天性异常的新发高度复杂染色体重排（CCR）。
De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.
作者信息
Curotti G, Benkhalifa M, Raybaud C, Picard F, Bellec V, Qumsiyeh M B
机构信息
Laboratoire Marcel Mérieux, Lyon, France.
出版信息
Genet Couns. 1999;10(3):259-64.
PMID:10546097
Abstract
We report on a child with ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low set ears, hirsutism, pectus excavatum, and developmental and language delay presenting with a balanced complex chromosomal rearrangement (CCR). R- and G-banding methods and fluorescence in situ hybridization were used to document that this is a complex translocation with five breakpoints involving chromosomes 1, 7, 10 and 21.
摘要
我们报告了一名患有上睑下垂、内眦赘皮、鼻梁凹陷、鲤鱼嘴、低位耳、多毛症、漏斗胸以及发育和语言迟缓的儿童，其表现为一种平衡的复杂染色体重排（CCR）。采用R显带和G显带方法以及荧光原位杂交技术来证明这是一种涉及1号、7号、10号和21号染色体的具有五个断点的复杂易位。
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