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Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e3181e8865f
Clinical and Laboratory Observations

Chromosomal Breakage Study in Children Suspected With Fanconi Anemia in the Indian Population

Korgaonkar, Seema MSc*; Ghosh, Kanjaksha MD*; Jijina, Farah MD*; Vundinti, Babu Rao PhD

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Abstract

Chromosomal breakage investigation using diepoxybutane induction was carried out in 195 pediatric patients suspected with Fanconi anemia (FA). Chromosomal breakage evaluation showed 33 (17%) patients with classical FA, 9 (4%) with somatic mosaicism FA, (when at least 50% of the metaphases showed chromosomal breakage and radial figures), 25 (13%) with FA with high frequency of chromosomal breakage and without clinical features, and 128 (66%) with suspected FA but had no chromosomal breakage and clinical features of FA. Chromosomal breakage investigation is an important diagnostic tool for differentiating FA from idiopathic aplastic anemia.

© 2010 Lippincott Williams & Wilkins, Inc.

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