Table 1.
22q11.2 microduplication cases
Case | Duplicated region | Inheritance | Phenotype |
---|---|---|---|
Patient 1 | chr22:18,938,160–21,505,425 | Maternal | Bladder exstrophy, hearing impairment, mild neuropsychiatric illness |
Patient 2 | chr22:18,890,264–21,464,056 | n.a.a | Bladder exstrophy, neuropsychiatric illness |
Patient 3 | chr22:18,890,264–21,461,788 | de novo | Glanular epispadia with dorsal curvation, duodenal atresia, single transverse palmar crease, high forehead, large eyes, protruding tongue |
Parental data was not available (n.a.).