对尿沉渣细胞进行核型分析证实了羊膜穿刺术中检测到的12号染色体三体嵌合体。

Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis.

作者信息

Leschot N J, Wilmsen-Linders E J, van Geijn H P, Samsom J F, Smit L M

机构信息

Department of Human Genetics, University of Amsterdam, The Netherlands.

出版信息

Clin Genet. 1988 Aug;34(2):135-9. doi: 10.1111/j.1399-0004.1988.tb02849.x.

DOI:10.1111/j.1399-0004.1988.tb02849.x

PMID:3056641

Abstract

A newborn is described in whom trisomy 12 mosaicism was detected prenatally at third trimester amniocentesis during the fourth pregnancy of a 34-year-old woman. After birth, trisomy 12 cells were found in placental tissue and in cultured urine sediment cells. A sample of cord blood and a skin biopsy revealed only normal (46,XX) cells. Both parents had a normal karyotype. After a difficult start with unexplained hypoglycaemias and convulsion equivalents, the girl is doing well at the age of 9 months: there are no signs of central motor disturbance. The importance of the use of cultured urine sediment cells in confirming chromosomal mosaicism is stressed.

摘要

本文描述了一名新生儿，在一名34岁女性的第四次妊娠孕晚期羊水穿刺产前检测出12三体嵌合体。出生后，在胎盘组织和培养的尿沉渣细胞中发现了12三体细胞。脐带血样本和皮肤活检仅显示正常（46,XX）细胞。父母双方核型均正常。在经历了不明原因低血糖和惊厥样发作的艰难开端后，这个女孩在9个月大时情况良好：没有中枢运动障碍的迹象。强调了使用培养的尿沉渣细胞在确认染色体嵌合体方面的重要性。