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Down综合征(Down Syndrome),又称21三体或先天愚型,是常染色体畸变中最常见的一种疾病。患者智力低下,且常伴有先天性心脏病。Down综合征患者有以下三种类型(1):(1)21三体型,其核型为47,XX,+21或47,XY,+21。(2)嵌合型,其核型为46,XX/47,XX,+21或46,XY/47,XY+21。(3)易位型,常为14/21易位或21/21易位,即D/G易位或G/G易位,其核型为46,XX,-D,+t(DqGq)或46,XY,-D,+t(DqGq)。自从1866年John Langdon Down第一次描述了Down综合征的临床症状后,人们
Down Syndrome, also known as trisomy 21 or Down’s syndrome, is the most common disease of autosomal aberrations. Patients with mental retardation, and often accompanied by congenital heart disease. Down syndrome patients have the following three types (1): (1) 21 trisomy 21 with a karyotype of 47, XX, +21 or 47, XY, +21. (2) Chimeric karyotypes of 46, XX / 47, XX, + 21 or 46, XY / 47, XY + 21. (3) The translocation, often 14/21 translocations or 21/21 translocations, ie D / G translocation or G / G translocation, has a karyotype of 46, XX, -D, + t (DqGq) Or 46, XY, -D, + t (DqGq). People first described the clinical symptoms of Down syndrome in 1866