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移动卫星与不稳定染色体易位:临床及细胞遗传学意义

Moving satellites and unstable chromosome translocations: clinical and cytogenetic implications.

作者信息

Farrell S A, Winsor E J, Markovic V D

机构信息

Division of Genetics, Credit Valley Hospital, Mississauga, Ontario, Canada.

出版信息

Am J Med Genet. 1993 Jul 1;46(6):715-20. doi: 10.1002/ajmg.1320460624.

Abstract

We describe 2 families in which acrocentric short arm material moved from one chromosome to another. In case 1, a meiotic event resulted in movement of an unusually large paternal 21p to chromosome 13 in the fetus. In case 2, a mitotic event resulted in fetal mosaicism. The short arm material from a paternal chromosome 15 moved to chromosome 14 in some of the fetal cells. Movement of acrocentric short arm material resulted from breakage and exchange in centromeric areas of repetitive DNA. We suggest the mechanism may be similar to that of previously reported "jumping" translocations. Failure to recognize movement of the short arms of acrocentric chromosomes can result in erroneous interpretation of prenatal cytogenetic results and of other cytogenetic assays dependent on acrocentric short arm polymorphisms.

摘要

我们描述了两个家族,其中近端着丝粒染色体短臂物质从一条染色体转移到了另一条染色体上。在病例1中,一次减数分裂事件导致胎儿中一条异常大的父源21号染色体短臂转移到了13号染色体上。在病例2中,一次有丝分裂事件导致胎儿出现嵌合体。父源15号染色体的短臂物质在一些胎儿细胞中转移到了14号染色体上。近端着丝粒染色体短臂物质的转移是由重复DNA着丝粒区域的断裂和交换导致的。我们认为该机制可能与先前报道的“跳跃”易位机制相似。未能识别近端着丝粒染色体短臂的转移可能会导致对产前细胞遗传学结果以及其他依赖近端着丝粒染色体短臂多态性的细胞遗传学检测结果的错误解读。

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