Table 3.
Chromosome abnormalities among infants/fetuses with aortico-pulmonary septation defects
| Chromosomal Abnormality | Tetralogy of Fallot |
L-TGVa | DORVb |
|---|---|---|---|
| 47,XXY | 1 | ||
| 47,XYY/46,XY mosaic | 2 | ||
| 45,X/46,XX/47,XXX mosaic | 1 | ||
| del 6p24.2 | 1 | ||
| add5p14; ish del (5)(p15.2p15.2) | 1 | ||
| add5p?15? | 1 | ||
| 46,XY, ins (16;?)(q12.1;?) | 1c | ||
| 46,XY, del(7)(q22q31.2) | 1d | ||
| 46,XY, der(21) t(8;21)(p21.1;p12)mat | 1d | ||
| 46,XX t(10;13)(q24;q14) | 1 | ||
| 46,X? t(1;9) | 1 | ||
| 47,XY +mar mat | 1 | ||
| 48,XX +mar1+mar2. ish mar1(WCP5+), mar2(WCPX+)/ 47,XX+mar1/47,XX+mar2/ 46,XX |
1 |
a
L-TGV=L-transposition of great vessels
b
DORV=double outlet right ventricle
c
This subject was also diagnosed with D-transposition of the great vessels.
d
These individuals also had tetralogy of Fallot.