| Literature DB >> 23537767 |
Faten Talmoudi1, Olfa Kilani, Wiem Ayed, Nizar Ben Halim, Fethi Mellouli, Lamia Torjmane, Lamia Aissaoui, Yosra Ben Youssef, Lobna Kammoun, Tarek Ben Othmane, Mohamed Bejaoui, Neila Ben Romdhane, Moez Elloumi, Sondes Hadiji, Sofiene Hentati, Imene Chemkhi, Nabila Abidli, Helmi Guermani, Sonia Abdelhak, Ahlem Amouri.
Abstract
Fanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) test. Induced chromosomal breakage study was successful in 171 out of 205 aplastic anemia (AA) patients. According to the sensitivity of MMC at 50 ng/ml, 38 patients (22.22%) were diagnosed as affected and 132 patients (77.17%) as unaffected. Somatic mosaicism was suspected in an 11-year-old patient with a FA phenotype. Twenty-six siblings of FA patients were also evaluated and five of them (19.23%) were diagnosed as FA. From this study, a standard protocol for diagnosis of FA was developed. It is routinely used as a diagnostic test of FA in Tunisia.Entities:
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Year: 2013 PMID： 23537767 DOI： 10.1016/j.crvi.2013.02.001
Source DB: PubMed Journal: C R Biol ISSN： 1631-0691 Impact factor: 1.583