New heritable fragile site with spontaneous expression at 1q41.
作者信息
Dar H, Bar-El H, Ziv M, Shapiro I
机构信息
Simon Winter Institute of Human Genetics, Bnai-Zion Medical Center, Technion, Faculty of Medicine, Haifa, Israel.
出版信息
Am J Med Genet. 1995 Jan 16;55(2):145-6. doi: 10.1002/ajmg.1320550202.
PMID:7717412
Abstract
The report presents a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 1q41 is segregating. The fragile site is present in the mother and her son. It is expressed spontaneously in 100% of the metaphases from lymphocyte culture using standard conditions. The use of folate deficient medium and the addition of FUdR to the medium did not affect the appearance nor the level of expression of the fragile site.
摘要
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