1000名因疑似遗传疾病前来就诊儿童的染色体异常情况。

Chromosomal anomalies in 1,000 children referred with suspected genetic disorders.

作者信息

Navsaria D, Mathews T, Conte R A, Verma R S

机构信息

Division of Genetics, Long Island College Hospital-SUNY Health Science Center, Brooklyn 11201.

出版信息

Hum Hered. 1993 May-Jun;43(3):137-40. doi: 10.1159/000154168.

DOI:10.1159/000154168

PMID:8330875

Abstract

One thousand children ranging from newborns to 13 years of age with a variety of clinical disorders were referred to us to investigate the possible presence of chromosomal abnormalities. Various types of chromosomal anomalies were found in 166 children (16.6%), which is significantly (p < 0.01) higher than in an unselected (control) population (0.48-0.55%). The male:female ratio was 3:2 for the total population. Furthermore, in our survey population, the sex ratio of Down's syndrome cases of males to females was 3:2.

摘要

1000名年龄从新生儿到13岁、患有各种临床疾病的儿童被转介到我们这里，以调查是否可能存在染色体异常。在166名儿童（16.6%）中发现了各种类型的染色体异常，这显著高于（p < 0.01）未经过筛选的（对照）人群（0.48 - 0.55%）。总体人群的男女比例为3:2。此外，在我们的调查人群中，唐氏综合征病例的男女比例为3:2。