Bernstein R, Steinhaus K A, Cain M J
Department of Pediatrics, College of Medicine, University of California, Irvine.
Prenat Diagn. 1992 Sep;12(9):709-16. doi: 10.1002/pd.1970120904.
An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.
因孕妇年龄较大，在孕13.3周时进行了羊膜穿刺术。发现了一种嵌合性染色体模式：在检查的50个细胞中，34个具有45,X核型。在14个核型数为46的细胞中，一条可识别的Y染色体被一个小的非荧光标记物取代。C显带在12个细胞中鉴定该标记物为等臂双着丝粒染色体。在两个细胞中，非荧光标记物似乎是单着丝粒的，看起来像一个非荧光的Yq缺失，但也可能是一个等臂双着丝粒Y染色体，其中一个着丝粒失活。两个核型数为47的细胞显示出两个单着丝粒标记物拷贝。用α卫星Y特异性着丝粒探针进行荧光原位杂交证实了这些标记物的Y染色体起源，并提供了更准确的产前诊断信息。
