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. 2019 May 1;7(6):e666. doi: 10.1002/mgg3.666

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
a

Parental data was not available (n.a.).