11148例新生儿染色体畸变发生率分析。

Humangenetik Pub Date : 1975-10-20 DOI:10.1007/BF00273626
J Nielsen, I Sillesen
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引用次数: 121

摘要

对11148例儿童进行染色体分析;29例有性染色体异常(2.60 / 1000),64例常染色体异常(5.74 / 1000)。主要染色体异常的总发生率为8.34 / 1000。染色体变异发生率为16.8 / 1000。最常见的变异是那些短臂大小的变异——D和G染色体的卫星和Y染色体大小的变异。到目前为止,对这种染色体变异的意义所知甚少。通过6项研究共54749例连续活产儿童的研究,目前已经很好地确定了大多数活产儿童染色体异常的发生率,见表1。然而,为了一些目的,需要对活产儿进行更多的染色体研究,例如寻找有染色体易位的家庭,研究分离率,并向有遗传性染色体畸变的家庭提供遗传建议,以及使孩子有染色体不平衡异常、智力迟钝和身体异常的风险增加。新生儿染色体检查的主要目的之一是研究不同染色体异常的儿童,特别是性染色体异常的儿童的发育情况,并与对照组进行比较,在需要时进行治疗,并向这类儿童的父母提出建议。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incidence of chromosome aberrations among 11148 newborn children.

Chromosome analysis has been made of 11148 children; 29 had sex chromosome abnormalities (2.60 per 1000) and 64 autosomal abnormalities (5.74 per 1000). The total incidence of major chromosome abnormalities was 8.34 per 1000. The incidence of chromosome variations was 16.8 per 1000. The most common variants were those with variation in size of short arms-satellites in D and G chromosomes and variations in Y chromosome size. So far, very little is known about the significance of such chromosome variations. The incidence of most chromosome abnormalities in liveborn children is well established by now from studies of a total of 54749 consecutively liveborn children in 6 studies as shown in Table 1. More chromosome studies of liveborn children are, however, needed for several purposes such as finding families with chromosome translocations, studying segregation rates and giving genetic advice to families with inheritable chromosome aberrations and an increased risk of getting children with unbalanced chromosome abnormalities, mental retardation and physical abnormalities. One of the main purposes in chromosome examination of newborn children is to study the development of children with different chromosome abnormalities, especially those with sex chromosome abnormalities, and compare then with controls, treat them when needed and give advice to the parents of such children.

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