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首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 22.
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Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 22.

机译:源自22号染色体的一条小的多余标记染色体的产前诊断和分子细胞遗传学特征。

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摘要

Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that cannot be identified or characterized by conventional banding cytogenetics, and are generally equal in size or smaller than a chromosome 20 [1-3]. sSMCs are present in 0.044% of newborn infants and in 0.075% of prenatal cases [1,3-5]. About 70% of sSMCs arise de now [4], about 70% of sSMCs are derived from acro-centric chromosomes [1,6], and about 70% cases of de novo sSMCs have no phenotypic effects [5].
机译:小的多余数字标记染色体(sSMCs)被定义为结构异常的染色体,无法通过常规的条带细胞遗传学鉴定或表征,并且通常大小等于或小于20号染色体[1-3]。 sSMC在新生儿中占0.044%,在产前病例中占0.075%[1,3-5]。现在约有70%的sSMCs出现[4],约有70%的sSMCs是从以杂色为中心的染色体衍生的[1,6],约70%的新生sSMCs没有表型效应[5]。

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