在一名患有智力障碍和先天性畸形的女孩中发现17号等臂染色体。
Identification of isochromosome 17 in a girl with mental retardation and congenital malformations.
作者信息
Salamanca-Gómez F, Armendares S
出版信息
Ann Genet. 1975 Dec;18(4):235-8.
PMID:1083191
Abstract
An isochromosome 17 was found in all analyzed cells of a mentally retarded and malformed girl. As the abnormal chromosome displayed a polymorphic distal band also observed in chromosome 17 of the father, it is suggested that the abnormal chromosome is the result of a non sister chromatid interchange at the level of the centromeric region of chromosomes 17 in paternal meiosis.
摘要
在一名智力发育迟缓且有畸形的女孩的所有分析细胞中发现了一条17号等臂染色体。由于这条异常染色体显示出一条多态性的远端带，该带也在父亲的17号染色体中观察到，因此提示这条异常染色体是父本减数分裂过程中17号染色体着丝粒区域发生非姐妹染色单体互换的结果。
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