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一名患有等臂(17p)染色体的儿童出现17号染色体短臂重复(17p)。

Duplication (17p) in a child with an isodicentric (17p) chromosome.

作者信息

Mascarello J T, Jones M C, Hoyme H E, Freebury M M

出版信息

Am J Med Genet. 1983 Jan;14(1):67-72. doi: 10.1002/ajmg.1320140111.

Abstract

We present a child with multiple structural defects due to duplication of the short arm and a small portion of the long arm of chromosome 17. Three children with similar cytogenetic abnormalities have been reported previously. The karyotype contained an isodicentric chromosome derived from chromosome 17. A clue to the mechanism that produced the isochromosome was retained in the genome in the form of a part of the chromosome 17 long arm which was attached to the short arm of a chromosome 10.

摘要

我们报告一名因17号染色体短臂和一小部分长臂重复而出现多种结构缺陷的儿童。此前已有三名具有类似细胞遗传学异常的儿童被报道。核型包含一条源自17号染色体的等臂双着丝粒染色体。产生这条等臂染色体的机制线索以17号染色体长臂的一部分的形式保留在基因组中,该部分附着于10号染色体的短臂上。

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