The mode of inheritance is autosomal recessive.
Somatic cell fusion analyses led to FA (Fanconi's anaemia) cases being assigned into eight distinct complementation groups, FA-A, FA-B, FA-C, FA-D1, FA-D2, FA-E, FA-F, and FA-G.
FA-A is the most common FA subtype in most populations, accounting for approximately 65% of cases; FA-C and FA-G each account for approximately 10-15% of cases, with the remaining subtypes being rare
FA group | Gene | Estimated proportion FA patients | Chromosomal location |
FA-A | FANCA | 66% | 16q24.3 |
FA-B | poss BRCA2 | <1% | |
FA-C | FANCC | 12% | 9q22.3 |
FA-D1 | BRCA2 | <1% | 13q12 |
FA-D2 | FANCD2 | <1% | 3p25.3 |
FA-E | FANCE | 4% | 6p21.3 |
FA-F | FANCF | 4% | 11p15 |
FA-G | FANCG/XRCC9 | 12% | 9p13 |
Reference:
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