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

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS
Chih-Ping Chen
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引用次数: 0

摘要

在羊膜腔穿刺术中,与正常细胞系相关的 46 条染色体细胞系中的部分三体综合征导致的重复嵌合的遗传咨询仍然困难重重,因为部分三体综合征导致的嵌合重复在产前诊断中既可能与正常表型相关,也可能与异常表型相关。本文全面综述了羊膜腔穿刺时与正常细胞系相关的 46 条染色体的细胞系中因部分三体而导致重复的嵌合病例,以及各种咨询问题,如培养假象、培养的羊膜细胞与未培养的羊膜细胞之间及不同组织之间的细胞遗传学差异、围产期异常细胞系的逐渐减少及胎儿可能的良好结局等。所提供的信息对产科医生和遗传咨询师为希望在这种情况下保留婴儿的父母提供遗传咨询非常有用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
ACS Applied Bio Materials
ACS Applied Bio Materials Chemistry-Chemistry (all)
CiteScore
9.40
自引率
2.10%
发文量
464
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