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嵌合体:对遗传咨询和医疗管理的影响。

Mosaicism: Implications for Genetic Counseling and Medical Management.

作者信息

Waldman Laura, Mahon Suzanne M

机构信息

Saint Louis University.

出版信息

Clin J Oncol Nurs. 2017 Aug 1;21(4):428-432. doi: 10.1188/17.CJON.428-432.

Abstract

Mosaicism describes the presence of two or more populations of cells with different genotypes in one individual that have developed from a single fertilized egg. This article reviews the various clinical presentations of mosaicism associated with hereditary cancer syndromes and the challenges in providing patients and their families with appropriate genetic testing, as well as provides recommendations for cancer presentation and early detection. Management of mosaicism is based on personal and family history, along with genetic testing results. 
.

摘要

嵌合体是指由单个受精卵发育而来的个体中存在两种或更多具有不同基因型的细胞群。本文综述了与遗传性癌症综合征相关的嵌合体的各种临床表现,以及为患者及其家属提供适当基因检测时所面临的挑战,并针对癌症表现和早期检测提出了建议。嵌合体的管理基于个人和家族病史以及基因检测结果。

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