Table 4.
Genetic findings, separated in cytogenetic and molecular genetic.
| Cytogenetic findings | Number of patients | Molecular genetic findings | Number of patients |
|---|---|---|---|
| (A) Very likely or probably causative for renal phenotype | |||
| Trisomy 21 | 2 | HNF1 | 6 |
| Trisomy 18 | 1 | GATA3 | 2 |
| Unbalanced translocation chr 10; 16 | 1 | EYA1 | 1 |
| Microdeletion chr 8, suspected BOR syndrome | 1 | KMT2D | 1 |
| Microdeletion 22q13 | 1 | PAX2 | 1 |
| Microdeletion 1q21.1 | 1 | SMAD4 | 1 |
| Deletion 4p16.1, Wolf-Hirschhorn syndrome | 1 | TRPS1 | 21 |
| Deletion chr 7, Williams-Beuren syndrome | 1 | PIGV | 1 |
| (B) Uncertain clinical relevance | |||
| Duplication chr 22 | 1 | FREM1 | 1 |
| 3 duplications chr 1; 2 | 1 | GATA3 | 1 |
| Microdeletion chr 15 | 1 | FRAS1 | 1 |
| TFAP2A | 1 | ||
| (C) Probably without clinical relevance | |||
| Duplication chr 5 | 1 | RET | 2 |
| ITGA8 | 1 | ||
| PAX2 | 1 | ||
| TBX18 | 1 | ||
| WWTR1 | 1 | ||
1
It is a pair of siblings, molecular genetic detection was performed in one of them and in the mother, in the second sibling diagnosis was made clinically because of these findings.