Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS ACS Applied Bio Materials Pub Date : 2024-09-01 DOI:10.1016/j.tjog.2024.07.003

Chih-Ping Chen

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Abstract

Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic deletion due to partial monosomy 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 deletion due to partial monosomy 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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羊膜腔穿刺术中 46 条染色体细胞系与正常细胞系部分单体导致缺失的嵌合遗传咨询

在羊膜腔穿刺术中，与正常细胞系相关的 46 条染色体的细胞系中部分单体缺失导致的嵌合遗传咨询仍然困难重重，因为部分单体缺失导致的嵌合缺失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部分单体缺失的嵌合病例，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及不同组织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。

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