Table 2 Clinically relevant molecular findings in FANCA gene in examined family
Patient | Asn1113Tyr | Ser890Asn | Large deletion | Genotype |
|---|---|---|---|---|
IV.3/brother | + | + | + | m/del |
IV.4/older sister | + | + | + | m/del |
IV.6/younger sister | − | − | + | −/del |
III.3/mother | − | − | + | −/del |
III.2/father | + | + | − | m/− |