Chromosomal breakage study in children suspected with Fanconi anemia in the Indian population.
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.
Korgaonkar
Seema
S
Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K.E.M Hospital Campus, Parel, Mumbai, India.
Ghosh
Kanjaksha
K
Jijina
Farah
F
Vundinti
Babu Rao
BR
D000293:Adolescent; D000741:Anemia, Aplastic / Q000175:diagnosis*; D015153:Blotting, Western; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics*; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000378:metabolism; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D008214:Lymphocytes / Q000166:cytology / Q000502:physiology; D009030:Mosaicism; D054875:Ubiquitination / Q000502:physiology
C499905:FANCD2 protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein