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在34910名新生儿中发现的染色体异常:丹麦奥胡斯一项为期13年的发病率研究结果

Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

作者信息

Nielsen J, Wohlert M

机构信息

Cytogenetic Laboratory, Arhus Psychiatric Hospital, Risskov, Denmark.

出版信息

Hum Genet. 1991 May;87(1):81-3. doi: 10.1007/BF01213097.

Abstract

As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.

摘要

作为一项关于环境因素对妊娠、分娩及胎儿影响的大型前瞻性研究的一部分,在13年的时间里,对奥胡斯市34910名新生儿进行了染色体检查。克兰费尔特综合征在每576名男孩中发现1例,XYY综合征在每851名男孩中发现1例,XXX综合征在每947名女孩中发现1例,特纳综合征在每1893名女孩中发现1例。在每11637名儿童中发现1例其他性染色体畸变。性染色体异常的总发病率为每426名儿童中有1例,即每1000名中有2.34例。最常见的常染色体异常是唐氏综合征,每592名儿童中有1例,相互易位每712名儿童中有1例。常染色体异常的总发病率为每164名儿童中有1例。在276名活产儿童和19名胎儿中发现了染色体异常,这些胎儿在产前染色体检查后流产。性染色体和常染色体异常的合并发病率为每118名儿童中有1例,即每1000名儿童中有8.45例。

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