Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population
Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population
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DOI：
10.1179/102453310x12583347009531
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发表时间：
2010-02-01
期刊：
影响因子：
1.9
通讯作者：
Vundinti, Babu Rao
中科院分区：
文献类型：
--
作者：
Korgaonkar, Seema;Ghosh, Kanjaksha;Vundinti, Babu Rao
Fanconi anemia (FA) is a rare autosomal recessive genetic disease, associated with congenital anomalies and a predisposition to cancers. FA patients exhibit spontaneous chromosome breakage and FA cells are sensitive to DNA interstrand crosslink agents and expresses high frequency of chromosome breakage. Recently 13 genes have been shown to be involved with the FA phenotype. We have carried out a detailed study in clinically diagnosed FA patients in an Indian population. Thirty three patients were clinically diagnosed with FA and had aplastic anemia and bleeding abnormalities. The genetic analysis revealed a significantly (P
