Table 1.
Case | t(8;22) Inheritance | Sex | Age (Yrs) | Birth Weight | Growth | Ears | Extremities | Genitalia | Development/ IQ | Reference |
---|---|---|---|---|---|---|---|---|---|---|
1a | maternal | M | 18 | normal | normal | prominent | clinodactyly | normal | 50 | Sanchez et al.31 |
2a | maternal | F | 29 | normal | normal | prominent, low set | clinodactyly | normal | 59 | Sanchez et al.31 |
3b | maternal | M | 12 | - | normal | - | clinodactyly | ectopic testes | 50 | Rethore et al.32 |
4b | maternal | M | 10 | - | normal | - | clinodactyly | - | 60 | Rethore et al.32 |
5 | paternal | M | 16 | - | normal | - | clinodactyly | ectopic testes | 70 | Rethore et al.32 |
6 | maternal | M | - | - | - | - | - | - | - | Rethore et al.32 |
7 | maternal | M | 5 | - | - | preauricular pit, low set | - | cryptorchidism | no speech at 5 yrs of age | Rethore et al.32 |
8 | paternal | M | 5.5 | normal | weight, length < 3% | preauricular pit, atretic ear | clinodactyly | normal | moderate speech and language delayc | Mark et al.26 |
9 | - | M | 43 | - | - | large | - | cryptorchidism | 50–60 | Helbig et al.27 |
10 | paternal | F | 10 | - | - | preauricular pit | - | - | educational assistance via math resource room | Gotter et al.23 |
11 | maternal | M | 3.5 | normal | normal | large | clinodactyly | - | 63d | This study |
“-” indicates unknown data.
Siblings.
No formal testing.
Mullen Scales of Early Learning.