Hsu L Y, Perlis T E
Prenat Diagn. 1984 Spring;4 Spec No:97-130. doi: 10.1002/pd.1970040708.
The survey of the incidence of chromosome mosaicism and pseudomosaicism detected in prenatal diagnosis included data from approximately 60 000 genetic amniocenteses in the United States. There were 59 participating cytogenetic laboratories nationwide. The overall incidence of chromosome mosaicism was 0.25 per cent (range of 0-0.89 per cent). The average frequency of pseudomosaicism involving multiple cells or clones was 0.7 per cent (range of 0-11.21 per cent). The frequency of single cell or clone pseudomosaicism was 2.47 per cent (range of 0-11.49 per cent). In cases of pseudomosaicism with trisomy, the most frequently involved chromosome was number 2; occurrence rates of trisomies 7,X,9,17 and 20 were also relatively high. In cases of pseudomosaicism with structural abnormalities, this survey showed an association between relative chromosome size and the frequency of involvement in structural rearrangement. Data on a total of 185 cases of chromosome mosaicism collected in this survey as well as from other documented sources showed 89 cases involved an autosome, 73 cases a sex chromosome, and 23 a marker chromosome. The frequency of noticeable phenotypic abnormalities was highest (37.8 per cent) in the autosomal mosaics and lowest (10.5 per cent) in the sex chromosome mosaics. The average rate for cytogenetic confirmation was 70 per cent.
这项在产前诊断中检测染色体嵌合体和假嵌合体发生率的调查纳入了来自美国约60000例遗传羊膜腔穿刺术的数据。全国有59个参与的细胞遗传学实验室。染色体嵌合体的总体发生率为0.25%（范围为0 - 0.89%）。涉及多个细胞或克隆的假嵌合体的平均频率为0.7%（范围为0 - 11.21%）。单细胞或克隆假嵌合体的频率为2.47%（范围为0 - 11.49%）。在三体性假嵌合体病例中，最常涉及的染色体是2号染色体；7号、X染色体、9号、17号和20号染色体三体的发生率也相对较高。在伴有结构异常的假嵌合体病例中，这项调查显示相对染色体大小与结构重排的受累频率之间存在关联。本次调查以及其他文献资料中收集的总共185例染色体嵌合体数据显示，89例涉及常染色体，73例涉及性染色体，23例涉及标记染色体。明显的表型异常频率在常染色体嵌合体中最高（37.8%），在性染色体嵌合体中最低（10.5%）。细胞遗传学确认的平均率为70%。
