Suppr超能文献

唐氏综合征:匈牙利362例病例的染色体分析

Down's syndrome: chromosome analysis of 362 cases in Hungary.

作者信息

Papp Z, Osztovics M, Schuler D, Méhes K, Czeizel E, Horváth L, Szemere G, László J

出版信息

Hum Hered. 1977;27(5):305-9. doi: 10.1159/000152883.

Abstract

A survey is given of the karyotypes observed in 362 children clinically diagnosed as cases of Down's syndrome from whom material was sent to 8 collaborating cytogenic laboratories in Hungary during the period 1965-1974. The sample studied cytogenetically constitutes about 20% of all children born in Hungary in this decade with Down's syndrome. The ways in which patients were selected for cytogenetic examinations could not be specified. In the sample, standard trisomy 21 was found in 91.7%, translocations in 3.9% and mosaicism in 4.4%. The mean age of the mothers of the children investigated was 29.05 years, a relatively low figure which may be explained by the decrease of the mean maternal age over the last decades.

摘要

对1965年至1974年期间临床诊断为唐氏综合征的362名儿童的核型进行了调查,这些儿童的样本被送往匈牙利的8个合作细胞遗传学实验室。经细胞遗传学研究的样本约占这十年间匈牙利出生的所有唐氏综合征儿童的20%。无法明确患者被选作细胞遗传学检查的方式。在样本中,标准型21三体占91.7%,易位型占3.9%,嵌合型占4.4%。所调查儿童的母亲平均年龄为29.05岁,这一数字相对较低,可能是由于过去几十年间母亲平均年龄下降所致。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验