title: Chromosomal breakage study in children suspected with Fanconi anemia in the Indian population.
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.
authors.affiliation: Department of Cytogenetics, National Institute of Immunohaematology (ICMR), K.E.M Hospital Campus, Parel, Mumbai, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Korgaonkar
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Farah
authors.initials: F
authors.lastname: Jijina
authors.forename: Babu Rao
authors.initials: BR
authors.lastname: Vundinti
mesh_terms: 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
chemical_list: C499905:FANCD2 protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein