沙特阿拉伯的唐氏综合征：发病率与细胞遗传学

Down's syndrome in Saudi Arabia: incidence and cytogenetics.

作者信息

Niazi M A, al-Mazyad A S, al-Husain M A, al-Mofada S M, al-Zamil F A, Khashoggi T Y, al-Eissa Y A

机构信息

Department of Pathology, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.

出版信息

Hum Hered. 1995 Mar-Apr;45(2):65-9. doi: 10.1159/000154261.

DOI:10.1159/000154261

PMID:7750976

Abstract

A study has been carried out in Riyadh to determine the incidence and distribution of Down's syndrome births during a 9-year period from July 1982 to June 1991. Down's syndrome was ascertained in 42 (23 females and 19 males) of 23,261 consecutive babies born alive to Saudi women, giving an incidence of 1 in 554 live births (1.8 per 1,000). A trend towards an increased incidence of Down's syndrome with advanced maternal age or increased maternal parity was found. Cytogenetic studies were performed on 37 cases of which all but 1 were non-disjunction trisomy 21, while the remaining infant had a translocation. This study provides the first step for further epidemiological surveys of Down's syndrome in the Kingdom of Saudi Arabia in order to prepare the ground for an effective antenatal screening programme for chromosomal disorders.

摘要

在利雅得开展了一项研究，以确定1982年7月至1991年6月这9年期间沙特女性活产婴儿中唐氏综合征的发病率和分布情况。在23261例沙特女性连续活产的婴儿中，确诊了42例唐氏综合征（23例女性和19例男性），活产发病率为1/554（每1000例中有1.8例）。研究发现，随着母亲年龄增长或产次增加，唐氏综合征的发病率有上升趋势。对37例病例进行了细胞遗传学研究，其中除1例为21号染色体易位外，其余均为21号染色体不分离三体。本研究为沙特阿拉伯王国进一步开展唐氏综合征流行病学调查迈出了第一步，以便为有效的染色体疾病产前筛查计划奠定基础。