title: [Cytogenetics study of chromosomal instability in Fanconi anemia in Tunisia].
abstract: Cells of Fanconi anemia (FA) is characterized by cellular and chromosomal hypersensitivity to DNA cross-linking agents. We tested mitomycin C at 25 ng/mL, 40 ng/mL and diepoxybutane 0.1 μg/mL in order to select a reference technique in the diagnosis of AF. We also studied the mitotic segregation of sex chromosomes. Our study focused on 73 patients with aplastic anemia suspecting AF and also 17 healthy controls. Thus, the MMC 25 ng/mL with a sensitivity to detect AF cells. DEB, by contrast, showed better specificity. FISH study shows the presence of instability in the AF mitotic cells. The association for routine diagnosis of MMC 25 ng/mL and DEB 0.1 mcg/mL, and the search for a mitotic instability by FISH is the best way of cytogenetic diagnosis of AF.
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Chahra
authors.initials: C
authors.lastname: Chbili
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Sana
authors.initials: S
authors.lastname: Bouraoui
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Hatem
authors.initials: H
authors.lastname: El Ghezal
authors.affiliation: Laboratoire de cytogénétique, génétique moléculaire et biologie de la reproduction humaines, CHU Farhat Hached, Sousse, Tunisie.
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
mesh_terms: D043171:Chromosomal Instability / Q000235:genetics*; D020732:Cytogenetic Analysis; D005199:Fanconi Anemia / Q000235:genetics*; D006801:Humans; D014416:Tunisia
keywords: Fanconi anemia; chromosomal instability; diepoxybutane; hybridation in situ fluorescence; mitomycin C