18三体综合征（爱德华兹综合征）中额外染色体亲本来源的回顾性研究。
Retrospective study of the parental origin of the extra chromosome in trisomy 18 (Edwards syndrome).
作者信息
Nöthen M M, Eggermann T, Erdmann J, Eiben B, Hofmann D, Propping P, Schwanitz G
机构信息
Institut für Humangenetik, Universität Bonn, Germany.
出版信息
Hum Genet. 1993 Oct;92(4):347-9. doi: 10.1007/BF01247332.
PMID:8225314
Abstract
The parental origin of the extra chromosome in trisomy 18 was traced in 30 informative families using highly polymorphic (CA) repeats mapped on the long arm of chromosome 18. Proband DNA was recovered from slides of chromosome preparations in 28 cases and from paraffin-embedded tissues in two cases. The extra chromosome was found to be of maternal origin in 26 cases (86.7%), and paternal origin in 4 cases (13.3%).
摘要
利用定位在18号染色体长臂上的高度多态性（CA）重复序列，对30个信息充分的家庭中18三体综合征额外染色体的亲本来源进行了追踪。在28例中从染色体制备玻片上回收了先证者DNA，2例从石蜡包埋组织中回收。发现额外染色体在26例（86.7%）中来自母方，4例（13.3%）来自父方。
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