Qumsiyeh M B, Tharapel A T, Shulman L P, Simpson J L, Elias S
Department of Pediatrics, University of Tennessee, Memphis 38163.
J Med Genet. 1990 Dec;27(12):780-1. doi: 10.1136/jmg.27.12.780.
A 36 year old white female was referred for chorionic villus sampling for advanced maternal age. Direct (cytotrophoblast) preparations of chorionic villi were 45,X, but cultured mesenchymal core cells from the same villi were 46,XX. Study of embryonic and extraembryonic tissues showed the aneuploidy to be limited to cytotrophoblasts from specific placental sites. In aggregate, the cytogenetic findings can best be explained by anaphase lag during development of the cytotrophoblast, suggesting that this cytological mechanism and not non-disjunction is responsible for the common occurrence of monosomy X in villi.
一名36岁的白人女性因高龄产妇接受绒毛取样检查。绒毛的直接(细胞滋养层)标本显示为45,X,但来自同一绒毛的培养间充质核心细胞为46,XX。对胚胎和胚外组织的研究表明,非整倍体仅限于特定胎盘部位的细胞滋养层。总体而言,细胞遗传学结果最好用细胞滋养层发育过程中的后期延迟来解释,这表明这种细胞学机制而非不分离是绒毛中X单体常见现象的原因。