在两名21三体综合征患者父亲的成纤维细胞培养物中检测非整倍体细胞。
Detection of aneuploid cells in fibroblast cultures from the father of two trisomy 21 patients.
作者信息
Simoni G, Mottura A, Stefanini M, Larizza L, Maraschio P, Nuzzo F
出版信息
Ann Genet. 1976 Sep;19(3):169-71.
PMID:136224
Abstract
Karyotype analysis was performed on successive cultures of fibroblasts from the parents of two trisomic 21 patients. Starting from the 7th passage in the father cultures an aneuploid clone showing an extra E-like chromosome was found, which eventually overgrew the cell population. The significance of this cytogenetic finding is discussed in relation to the recurrence of the trisomy in the family.
摘要
对两名21三体综合征患者父母的成纤维细胞连续培养物进行了核型分析。在父亲的培养物中，从第7代开始发现了一个非整倍体克隆，该克隆显示有一条额外的E样染色体，最终其在细胞群体中占主导地位。结合该家族中三体综合征的复发情况，讨论了这一细胞遗传学发现的意义。
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