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Duplication of distal 22q |
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| Authors: | Dvorak Abeliovich Esther Maor Nava Bashan Rivka Carmi |
| Abstract: | We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome. |
| Keywords: | duplication 22q aryl sulfatase A coloboma of iris Pierre Robin anomaly cleft palate MCA syndrome |