Fanconi anemia diagnosed by genetic testing

Abstract

Background : Fanconi anemia (FA) is a rare genetic disorder inherited in an autosomal recessive manner. The clinical phenotype varies depending on the involvement of different genes. Major physical abnormalities mainly affect the limbs and spine.. Methods/Observation : We report the case of an 11-year-old girl from a first-degree consanguineous marriage. The classic triad of short stature, malformation syndrome and early bone marrow failure suggested AF, which was confirmed by the detection of significant chromosomal instability after culture with Mitomycin C, compared with a normal control. Conclusion : This case highlights the crucial role of cytogenetics in the diagnosis of Fanconi anemia and genetic counseling to improve the management of affected children and their families. Keywords : Fanconi anemia; chromosomal breaks; mitomycin C.