Norlasiah I S, Clyde M M, Boo N Y
Genetics Laboratory, Bangunan LPPKN, Kuala Lumpur.
Med J Malaysia. 1995 Mar;50(1):52-8.
During the period 1 January 1990-31 December 1990, 68 neonates with congenital abnormalities were successfully analysed for chromosome abnormalities in order to determine the contribution of chromosome aberrations to the aetiology of congenital abnormalities. The neonates were karyotyped employing the G-banding technique. Twenty-nine babies showed abnormal chromosome karyotypes. Twenty-six were observed to have classic trisomy syndromes; ie. trisomy 21 (32.3%), trisomy 18 (3.0%), and trisomy 13 (3.0%). The mean maternal age of the mothers with babies having normal karyotype was lower than the mean maternal age of the mothers having babies with abnormal karyotypes. From this study the incidence of congenital abnormalities due to chromosomal abnormalities is found to be 1:838 livebirths. Frequency of newborns having abnormal chromosomes is 0.14% for Malays, 0.12% for Chinese and 0.06% for Indians.
在1990年1月1日至1990年12月31日期间，为了确定染色体畸变在先天性异常病因中的作用，对68例患有先天性异常的新生儿成功进行了染色体异常分析。采用G显带技术对新生儿进行核型分析。29例婴儿显示染色体核型异常。观察到26例患有典型的三体综合征，即21三体（32.3%）、18三体（3.0%）和13三体（3.0%）。核型正常婴儿的母亲平均年龄低于核型异常婴儿的母亲平均年龄。从这项研究中发现，染色体异常导致的先天性异常发生率为1:838活产。马来人的新生儿染色体异常频率为0.14%，中国人为0.12%，印度人为0.06%。
