Table 1. Clinical features of RMI2-deleted siblings.
| Feature | Bloom syndrome | Sibling 1 | Sibling 2 |
|---|---|---|---|
| Prenatal growth deficiency | + | - | + |
| Postnatal growth deficiency | + | - | + |
| Decreased subcutaneous fat | + | - | - |
| Photosensitivity | + | - | - |
| Feeding difficulties | + | - | - |
| Gastro-esophageal reflux | + | - | + |
| Recurrent infections | + | - | - |
| Learning difficulties | + (variable) | - | - |
| Cancer onset in early adulthood | + | None at age 6 | None at age 4 |
| Diabetes | + | Not at age 6 | Not at age 4 |
| Café-au-lait macules | + | ++ | ++ |
| Increased sister chromatid exchange | + | + | + |