Verma I C, Mathews A R, Faquih A, el-Zouki A A, Malik G R, Mohammed F
Department of Pediatrics, Al Arab University of Medicine, Benghazi, Libya.
Indian J Pediatr. 1990 Mar-Apr;57(2):245-8. doi: 10.1007/BF02722095.
The frequency of Down syndrome in Libya was 1 in 516 live births. The mean age of Down mother was 35.62 years. Eighty two percent of the Down mothers were over 30 years of age as compared to 36% of the control Libyan mothers. As there was a greater percentage of late conceptions, the maternal age appears to be influential in the birth of Down syndrome in Libya. Cytogenetically 96% of the cases were that of trisomy 21. There was one case each of mosaic and 21/21 translocation, and four cases of 14/21 translocation as evidenced by Giemsa banding. Twenty two percent of the cases of Down syndrome also had other associated congenital abnormalities. The unique features involved in genetic counselling in this population are discussed. This study reflects the enormous problem of Down syndrome in the Arab world.
利比亚唐氏综合征的发病率为每516例活产中有1例。唐氏综合征母亲的平均年龄为35.62岁。82%的唐氏综合征母亲年龄超过30岁,而利比亚对照母亲中这一比例为36%。由于晚期受孕的比例更高,产妇年龄似乎对利比亚唐氏综合征的出生有影响。细胞遗传学检测显示,96%的病例为21三体。经吉姆萨染色证实,有1例嵌合体和1例21/21易位,4例14/21易位。22%的唐氏综合征病例还伴有其他先天性异常。讨论了该人群遗传咨询中涉及的独特特征。这项研究反映了阿拉伯世界唐氏综合征的巨大问题。