J Hematol Mult Myeloma | Volume 3, Issue 1 | Short Communication | Open Access
Arundhati S Athalye, Mahendra B Sute, Prochi F Madon, Sona B Nair*, Rupesh R Sanap, Prashant M Padyal, Vasant J Dhumal, Hrushikesh M Lele, Dhanashree J Warang, PritamTari, Prachi A Deshmukh, Prashant K Makwana and Firuza R Parikh
Department of Assisted Reproduction and Genetics, Jaslok Hospital, India
*Correspondance to: Sona B Nair
Fulltext PDFChromosome instability syndromes or chromosome breakage disorders are a group of inherited human diseases unified by the abnormal behavior of their chromosomes. These single gene disorders mainly have an autosomal recessive mode of inheritance. Fanconi Anemia (FA) belongs to this class of chromosome breakage disorders and is a cause of bone marrow failure due to damage in the DNA repair system. The patients show hypersensitivity to specific chromosome damaging agents which manifest as high levels of breaks and radials. Mitomycin C (MMC) induced chromosome stress test was carried out on blood samples of 89 patients suspected to have a plastic anemia. Out of the 89 cases 9 cases were FA positive, 6 cases were mildly positive and 74 were negative.
Athalye AS, Sute MB, Madon PF,Nair SB, Sanap RR, Padyal PM, et al.Chromosome Stress Test in Fanconi Anemia. J Hematol Mult Myeloma. 2018;3(1):1014.