Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2020 Mar;59(2):334-337. doi: 10.1016/j.tjog.2020.01.028.
We present prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis with a favorable outcome, and we review the literature of mosaic distal 5p deletion.
A 35-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Amniocentesis revealed the result of 46,XY,del(5)(p13)[1]/46,XY[19]. Among 20 colonies of cultured amniocytes, all four cells in one colony had a karyotype of 46,XY,del(5)(p13) with a distal deletion of 5p13→pter, while the rest 19 colonies had a karyotype of 46,XY. Repeat amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic analysis revealed a karyotype of 46,XY in all 20 colonies. Simultaneous array comparative genomic hybridization (aCGH) using the DNA extracted from the uncultured amniocytes revealed no genomic imbalance. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 3621-g male baby was delivered with no phenotypic abnormality. The cord blood had a karyotype of 46,XY. Postnatal urinary cells analysis by interphase fluorescence in situ hybridization (FISH) using a 5p terminal FISH probe detected no abnormal cell in the urine.
Mosaicism for a distal 5p deletion in a single colony at amniocentesis can be associated with a favorable outcome.
我们介绍了一例在羊膜穿刺术时单个细胞系出现 5p 远端缺失嵌合体的产前诊断结果，且结局良好，并回顾了远端 5p 缺失嵌合体的文献。
一名 35 岁的初产妇因高龄行羊膜穿刺术，妊娠 18 周时发现 46,XY,del(5)(p13)[1]/46,XY[19]。在培养的羊水细胞 20 个克隆中，其中一个克隆的 4 个细胞的核型为 46,XY,del(5)(p13)，存在 5p13→pter 远端缺失，而其余 19 个克隆的核型为 46,XY。妊娠 21 周时再次行羊膜穿刺术。常规细胞遗传学分析显示所有 20 个克隆的核型均为 46,XY。同时对未培养的羊水细胞提取的 DNA 进行 array 比较基因组杂交（aCGH），未发现基因组不平衡。产前超声检查未见异常。妊娠 38 周时，分娩出 3621g 的男婴，无表型异常。脐带血核型为 46,XY。应用 5p 端荧光原位杂交（FISH）探针进行的间期 FISH 检测，未在尿液中发现异常细胞。
在羊膜穿刺术时单个细胞系出现 5p 远端缺失嵌合体可能与良好的结局相关。
