在一个拥有“巨型卫星”的家庭中发现了6p三体。

Humangenetik Pub Date : 1975-10-20 DOI:10.1007/BF00273632

H Chiyo, Y Kuroki, I Matsui, K Yanagida, Y Nakagome

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引用次数: 17

摘要

在一个畸形和智障婴儿及其父亲的一条d组染色体上观察到一个非常大的(巨大的)卫星。详细的细胞遗传学研究表明，这个巨大的卫星实际上代表了一条易位t(6;15)的der(15)染色体(p21;p12或13)。该提议是三体的6p的一部分(6pter导致6p21)。父亲是一个平衡携带者，但6号短臂缺失在常规核型分析中很难检测到。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A 6p trisomy detected in a family with a "giant satellite".

A very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter leads to 6p21). The father was a balanced carrier, however, the deletion of the short arm of a No. 6 was hard to detect in routine karyotype analysis.

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Humangenetik

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