International Journal of Pediatrics 2010;37(5):490-493

doi:10.3760/cma.j.issn.1673-4408.2010.05.016

New clinical features of Fanconi anemia

Yanke YIN

Keywords

Fanconi anemia; Genotype; Phenotype; Mosaicism

Country

China

Language

Chinese

Abstract

Fanconi anemia performs (FA) great clinical heterogeneity. Although the identification of FA related genes extends the recognition of FA pathogenesis, few stringent genotype-phenotype connections have emerged. For the same FA genotype patients, it seems that type of mutation influences clinical phenotype more importantly, Modifier genes,environmental factor, can also result in obviously different clinical phenotype. Different from multiple genotypes and multiple clinical phenotypes, FA cellular phenotype is characteristic, and is the most important basis of diagnosis.