20号染色体三体
Trisomy of chromosome 20.
作者信息
Pan S F, Fatora S R, Haas J E, Steele M W
出版信息
Clin Genet. 1976 May;9(5):449-53. doi: 10.1111/j.1399-0004.1976.tb01595.x.
Abstract
A neonate with ususual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotope of 47,XX,+20.
摘要
一名面部特征异常且伴有多种先天性畸形的新生儿在出生4小时后死亡。尸检显示存在严重的胃肠道系统异常和脊柱发育不良。对取自肺活检组织培养的成纤维细胞进行的细胞遗传学评估显示核型为47,XX,+20。
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