羊膜穿刺术未检测到性染色体嵌合体。

Sex chromosome mosaicism not detected at amniocentesis.

作者信息

Roland B, Cox D M, Rudd N L

机构信息

Department of Pathology, University of Calgary, Canada.

出版信息

Prenat Diagn. 1990 May;10(5):333-6. doi: 10.1002/pd.1970100509.

DOI:10.1002/pd.1970100509

PMID:2143821

Abstract

Amniocentesis was performed because of a fetal abdominal wall defect, and a 45,X karyotype was obtained. A near-normal male infant with no features of Turner syndrome was delivered. The karyotype of the infant was 45,X/46,X,dic(Y)(q11), with each of the cell lines present in approximately 50 per cent of the lymphocytes and fibroblasts examined.

摘要

因胎儿腹壁缺损行羊膜腔穿刺术，获得45,X核型。分娩出一名外观接近正常且无特纳综合征特征的男婴。婴儿的核型为45,X/46,X,dic(Y)(q11)，在所检查的淋巴细胞和成纤维细胞中，每种细胞系约占50%。