| Popis: |
Fanconi anemia (FA), first described by Fanconi in 1927, is an autosomal recessive disease characterized by aplastic anemia (pancytopenia with bone marrow hypoplasia) and associated with a variety of congenital anomalies, increased risk of malignancy, and chromosomal instability (Schroeder et al. 1964). The basic defect is still unknown. The congenital malformations may vary in site and severity and some patients do not have any malformation at all (Alter and Potter 1983; Glanz and Fraser 1982). The age of onset of pancytopenia is also variable. This variability in symptoms causes problems in the early diagnosis of the disease. The aims of this study were: 1. To evaluate the intrafamilial and interfamilial variability of the clinical, hematological, and cytogenetic findings in the patients 2. To determine the most useful diagnostic symptoms and signs postnatally as well as prenatally 3. To test the data for the presumed autosomal recessive inheritance 4. To study the genealogical aspects of FA families |
