21号染色体长臂部分三体所致的唐氏综合征
Down syndrome due to partial trisomy 21q.
作者信息
Cervenka J, Gorlin R J, Djavadi G R
出版信息
Clin Genet. 1977 Feb;11(2):119-21. doi: 10.1111/j.1399-0004.1977.tb01288.x.
Abstract
A patient is reported with a typical Down syndrome phenotype, caused by patrial trisomy of chromosome 21. Based on the present case and data from the literature, it is suggested that the Down phenotype is due to the trisomy of the distal portion of the band (q22) of chromosome 21.
摘要
报告了一名患有典型唐氏综合征表型的患者，其病因是21号染色体部分三体。根据本病例及文献数据，提示唐氏表型是由于21号染色体带（q22）远端部分三体所致。
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