{"title":"羊膜腔穿刺术中 46 条染色体的细胞系与正常细胞系中部分三体综合症导致的重复的嵌合遗传咨询","authors":"Chih-Ping Chen","doi":"10.1016/j.tjog.2024.07.002","DOIUrl":null,"url":null,"abstract":"<div><p>Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic duplication due to partial trisomy has been reported to be associated with either normal or abnormal phenotype in prenatal diagnosis. This article makes a comprehensive review of the reported cases of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis and various counseling issues such as culture artefact, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the abnormal cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.</p></div>","PeriodicalId":49449,"journal":{"name":"Taiwanese Journal of Obstetrics & Gynecology","volume":"63 5","pages":"Pages 624-627"},"PeriodicalIF":2.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1028455924001712/pdfft?md5=6d81234e7c2f10684023eb75e2d25520&pid=1-s2.0-S1028455924001712-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis\",\"authors\":\"Chih-Ping Chen\",\"doi\":\"10.1016/j.tjog.2024.07.002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic duplication due to partial trisomy has been reported to be associated with either normal or abnormal phenotype in prenatal diagnosis. This article makes a comprehensive review of the reported cases of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis and various counseling issues such as culture artefact, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the abnormal cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.</p></div>\",\"PeriodicalId\":49449,\"journal\":{\"name\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"volume\":\"63 5\",\"pages\":\"Pages 624-627\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001712/pdfft?md5=6d81234e7c2f10684023eb75e2d25520&pid=1-s2.0-S1028455924001712-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Taiwanese Journal of Obstetrics & Gynecology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1028455924001712\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Taiwanese Journal of Obstetrics & Gynecology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1028455924001712","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis
Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic duplication due to partial trisomy has been reported to be associated with either normal or abnormal phenotype in prenatal diagnosis. This article makes a comprehensive review of the reported cases of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis and various counseling issues such as culture artefact, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the abnormal cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.
期刊介绍：
Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology.
The aims of the journal are to:
1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health
2.Deliver evidence-based information
3.Promote the sharing of clinical experience
4.Address women-related health promotion
The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
