一个22号染色体家族性臂间倒位，伴有一名重组个体，呈现出一种“纯”部分单体综合征。
A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
作者信息
Watt J L, Olson I A, Johnston A W, Ross H S, Couzin D A, Stephen G S
出版信息
J Med Genet. 1985 Aug;22(4):283-7. doi: 10.1136/jmg.22.4.283.
Abstract
A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.
摘要
本文描述了一个22号染色体臂间倒位inv(22)(p11q12)正在进行分离的家系。特别提到了一位具有母源“纯”22号染色体部分单体综合征的独特重组个体。已尝试将表型异常与22q12----qter片段的单体性相关联。
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