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额外小标记染色体的特点、产前诊断和遗传咨询 被引量:16

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摘要 额外小标记染色体(small supernumerary marker chromosomes,sSMCs)又称额外结构异常染色体(extra structurally abnormal chromosomes,ESAC),简称标记染色体,是指形态上可辨认但来源和特征通常不能被传统细胞遗传学的染色体显带技术所识别的结构异常的多余染色体,其大小通常等于或小于同一个中期染色体核型中的20号染色体。
作者 潘虹
出处 《中华围产医学杂志》 CAS 北大核心 2012年第10期588-591,共4页 Chinese Journal of Perinatal Medicine
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  • 1傅俊江,夏家辉,龙志高,杨毅,潘乾,廖晓东,夏希,陈胜湘.一例智力低下患者7q^+标记染色体的来源鉴定[J].实验生物学报,1996,29(2):151-157. 被引量:11
  • 2刘权章.人类染色体方法学[M].北京:人民卫生出版社,1992.269-271.
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  • 7Guanciali-Franchi P, Calatrese G, Morizio E, et al. Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. Am J Med Genet, 2004,127 : 144-148.
  • 8Dawson AJ, Konkin D, Riordan D, et al. Mosaic trisomy of a small r(1) with an abnormal phenotype. Am J Hum Genet,2001, 103:32-35.
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  • 10Lin CC, Hsieh YY, Wang CH, et al. Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype. Prenat Diag., 2006, 26:898-902.

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