Be C, Velásquez P, Youlton R
Laboratorio de Citogenética, Clínica Las Condes, Santiago, Chile.
Rev Med Chil. 1997 Mar;125(3):317-22.
Chromosomal abnormalities are the most frequent cause of first trimester spontaneous abortions (SA). During the period September 1989 through May 1996 we have cytogenetically studied 640 embryonic tissue samples obtained from cases of SA. Of these, 609 samples (95.1%) were successfully karyotyped. An abnormal karyotype was observed in 388 cases (63.7%). The sex ratio (XY/XX) was 1.03. There was no difference of this ratio between cytogenetically normal and abnormal embryos. The most frequent abnormalities detected were autosomal trisomies (239/388 [61.6%]) followed by triploidy (62 cases, 16%), monosomies (41 cases, 10.6%) and tetraploidy (17 cases, 4.4%). The single most common anomaly observed was trisomy 16 (73 cases, 18.8%). The frequency of trisomies, with the exception trisomy 16, was related with advanced maternal age.
染色体异常是孕早期自然流产(SA)最常见的原因。在1989年9月至1996年5月期间,我们对640例自然流产病例的胚胎组织样本进行了细胞遗传学研究。其中,609个样本(95.1%)成功进行了核型分析。在388例(63.7%)中观察到异常核型。性别比(XY/XX)为1.03。细胞遗传学正常和异常胚胎之间的这一比例没有差异。检测到的最常见异常是常染色体三体(239/388 [61.6%]),其次是三倍体(62例,16%)、单体(41例,10.6%)和四倍体(17例,4.4%)。观察到的最常见单一异常是16三体(73例,18.8%)。除16三体外,三体的频率与母亲高龄有关。