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[立陶宛新生儿的染色体异常]

[Chromosome anomalies among newborn infants in Lithuania].

作者信息

Idzelene I P

出版信息

Genetika. 1978;14(12):2193-6.

PMID:744478
Abstract

Cytogenetic investigation has been carried out in 4032 newborn infants, 31 of which are found to have karyotype anomalies, which makes 7.7 per 1000 births. The frequency of anomalies in the system of sex chromosomes is 3.2 per 1000. This index is 4.9 per 1000 males, and 1.5 per 1000 females. The frequency of the main types of anomalies turned out to be: XXY--3.0 per 1000 males, XYY--1.0 per 1000 males, XXX--1.0 per 1000 females. The frequency of trisomies of autosomes is 2.0 per 1000 births, trisomy 21 being the main type among them (1.7 per 1000 births). The frequency of structural rearrangements of autosomes is 2.5 per 1000 births, Robertsonian translocations being 1.2 per 1000, reciprocal translocations--1.0 per 1000, and others--0.2 per 1000. The ratio of familial and sporadic mutants was found to be 50%: 50%. Sixty per cent of structural rearrangements are balanced ones, and their carriers does not show any noticeable phenotypic distortions.

摘要

对4032名新生儿进行了细胞遗传学调查,其中31名被发现有核型异常,即每1000例出生中有7.7例。性染色体系统异常的频率为每1000例中有3.2例。该指标在男性中为每1000例中有4.9例,在女性中为每1000例中有1.5例。主要异常类型的频率为:XXY——每1000名男性中有3.0例,XYY——每1000名男性中有1.0例,XXX——每1000名女性中有1.0例。常染色体三体的频率为每1000例出生中有2.0例,其中21三体是主要类型(每1000例出生中有1.7例)。常染色体结构重排的频率为每1000例出生中有2.5例,罗伯逊易位为每1000例中有1.2例,相互易位为每1000例中有1.0例,其他为每1000例中有0.2例。发现家族性和散发性突变体的比例为50%:50%。60%的结构重排是平衡的,其携带者没有表现出任何明显的表型畸变。

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