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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

Journal of Pediatric Hematology/Oncology: November 2010 - Volume 32 - Issue 8 - p 606-610
doi: 10.1097/MPH.0b013e3181e8865f
Clinical and Laboratory Observations

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.

*Department of Cytogenetics, National Institute of Immunohaematology (ICMR)

Department of Hematology, K.E.M Hospital Campus, Parel, Mumbai, India

The study was carried out with the Indian Council of Medical Research (ICMR) core grant to the Institute.

Reprints: Babu Rao Vundinti, PhD, Department of Cytogenetics, National Institute of Immunohaematology (ICMR), 13th floor, New Multistoried Building, K.E.M Hospital Campus, Parel, Mumbai 400012, India (e-mail:

Received for publication February 5, 2010; accepted May 14, 2010

© 2010 Lippincott Williams & Wilkins, Inc.