[三倍体13]。

La Presse medicale Pub Date : 2020-02-10 DOI:10.32388/98y32d
R. Berger
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引用次数: 0

摘要

13三体综合征(Patau综合征)是一种人类染色体疾病,大约每10,000-25,000个活产婴儿中就有1个发生。三体是指一条染色体有三个副本,而不是正常的两个。在13号三体中,存在一条额外的13号染色体。大约80%患有13号三体综合征的婴儿会出现完全三体(影响所有细胞),而其余的婴儿则会出现三体,这是由于被称为易位的细胞重排(一条染色体的全部或部分附着在另一条染色体上)或嵌合体(个体中有两条不同的细胞系)。
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[Trisomy 13].
Trisomy 13 syndrome (Patau syndrome) is a disorder of human chromosomes which occurs in approximately 1 in 10,000-25,000 live-born infants. Trisomy refers to three copies of a chromosome instead of the normal two and in Trisomy 13 there is the presence of an extra #13 chromosome. Approximately 80% of infants with Trisomy 13 syndrome will have a full trisomy (affecting all cells) while the remainder will have a trisomy due to a rearrangement of cells called a translocation (an attachment of all or part of one chromosome to another chromosome) or have mosaicism (two different cell lines in an individual).
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