boy |
c.1521_1523delCTT/c.1739_1740insT |
c.1521_1523delCTT (donor) |
c.1739_1740insT |
9 years |
14 years |
FTT, NP, SA positive |
boy |
c.1521_1523delCTT/c.3909C>G |
c.1521_1523delCTT (donor) |
c.3909C>G |
birth |
3 months |
MI |
girl* |
c.1521_1523delCTT/c.1521_1523delCTT |
c.1521_1523delCTT (donor) |
c.1521_1523 delCTT |
3 months |
13 months |
RI, PA positive |
girl* |
c.828C>A /c.1521_1523delCTT |
c.828C>A (donor) |
c.1521_1523delCTT |
11 months |
6 yrs 1 month |
RI, PA positive |
boy |
c.3909C>G/c.828C>A |
c.3909C>G (mother) |
c.828C>A |
birth |
12 months |
MI |