title: Cytogenetic assessment of Fanconi anemia in children with aplastic anemia in Tunisia.
abstract: BACKGROUND
  Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for Fanconi anemia (FA) diagnosis. The aim of the present study was to assess the proportion of FA cases among aplastic anemia (AA) in Tunisian pediatric patients.
  
  
  METHODS
  Investigation of mitomycin C-induced chromosomal breakage was carried out in 163 pediatric patients with AA and siblings of the cases where diagnosis of FA was confirmed. We identified 31 patients with FA whose percentage of unstable mitoses ranges from 65% to 100%. Among 18 siblings who were investigated for chromosomal instability, 3 were incidentally found to be affected.
  
  
  CONCLUSIONS
  FA is an important cause of AA in Tunisia. Our report is the first study in North Africa that explored cytogenetic and phenotypic findings in FA children. It also showed the importance of mitomycin C sensitivity screening in all FA siblings.
authors: *Laboratory of Histology and Cytogenetics †Laboratory of Biomedical Genomics and Oncogenetics **Laboratory of Transmission, Immunology and Infection Control, Institut Pasteur de Tunis Departments of §Haematology and Transplantation ∥Paediatric Immuno-Haematology, National Bone Marrow Transplantation Centre ¶Department of Haematology, Aziza Othmana Hospital #Laboratory of Medical Genetics, Tunis ‡Department of Haematology, Hedi Chaker University Hospital, Sfax, Tunisia.
authors: Faten
authors: F
authors: Talmoudi
authors: Lobna
authors: L
authors: Kammoun
authors: Nizar
authors: N
authors: Benhalim
authors: Lamia
authors: L
authors: Torjemane
authors: Monia
authors: M
authors: Ouederni
authors: Lamia
authors: L
authors: Aissaoui
authors: Amel
authors: A
authors: Lakhal
authors: Fethi
authors: F
authors: Mellouli
authors: Tarek B
authors: TB
authors: Othmen
authors: Mohamed
authors: M
authors: Bejaoui
authors: Sonia
authors: S
authors: Abdelhak
authors: Mounira
authors: M
authors: Meddeb
authors: Koussay
authors: K
authors: Dellagi
authors: Sondes
authors: S
authors: Hdiji
authors: Ahlem
authors: A
authors: Amouri
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D043171:Chromosomal Instability; D019457:Chromosome Breakage / Q000187:drug effects; D003241:Consanguinity; D020732:Cytogenetic Analysis; D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016685:Mitomycin / Q000494:pharmacology; D014416:Tunisia
chemical_list: D016685:Mitomycin