A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.
作者信息
Maggouta F, Roberts S E, Dennis N R, Veltman M W M, Crolla J A
出版信息
J Med Genet. 2003 Jul;40(7):e84. doi: 10.1136/jmg.40.7.e84.
Abstract
摘要
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A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.一名具有严重表型的患者存在一条15号额外标记染色体，该染色体在普拉德-威利/安吉尔曼综合征关键区域呈四体状态。
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