Table 1.
Characteristics of 14 Patients with Microdeletions at the 22q11.2 Locus Associated with the DiGeorge Syndrome.*
| Patient No. | Deletion Type† |
Kidney Phenotype |
Kidney Location |
Urinary Tract Phenotype |
Extrarenal Phenotype |
Sex | Nationality | Age at Diagnosis |
Outcome |
|---|---|---|---|---|---|---|---|---|---|
| Discovery cohort | |||||||||
| P1 | A–D | Renal hypodysplasia (right), cortical cyst (left) | Bilateral | None | None | M | French | 14 days | Normal renal function |
| P2 | A–D | Renal agenesis | Right | None | Developmental delay | M | Italian | 10 yr | Normal renal function |
| P3 | B–D | Normal renal parenchyma | Left | Left ureterovescical junction obstruction, hypospadia | Arched palate, mild antimongoloid slants | M | Macedonian | 3 mo | Mild renal insufficiency |
| P4 | C–E | Renal agenesis | Left | Vesicoureteral reflux, megaureter | Ventricular septal defect | M | French | 3 mo | Mild renal insufficiency, microalbuminuria |
| P5 | C–D | Renal hypodysplasia, cortical cysts | Left | Left megaureter | Undescended testis, epicanthus, chest hemangioma | M | Czech | 1 mo | Normal renal function |
| P6 | C–D | Renal agenesis | Bilateral | None | None | M | French | Prenatal | Termination of pregnancy |
| P7 | C–D | Reflux nephropathy | None | Vesicoureteral reflux | None | F | European American | 16 yr | Mild renal insufficiency |
| P8 | C–D | Renal hypodysplasia | Left | None | None | F | Polish | 9 yr | Normal renal function |
| P9 | C–D | Renal hypodysplasia and scarring | Bilateral | Ureteropelvic junction obstruction, vesicoureteral reflux, bladder diverticuli | Phimosis | M | Italian | Birth | Chronic kidney disease |
| P10 | C–D | Renal agenesis | Left | Vesicoureteral reflux | Undescended testis | M | Swiss | Birth | Normal renal function |
| P11 | C–D | Renal agenesis | Left | None | None | F | Italian | 21 yr | Normal renal function |
| Replication cohort | |||||||||
| RP1 | A–D | Renal agenesis | Right | None | None | M | Polish | 8 yr | Normal renal function |
| RP2 | B–D | Renal agenesis | Left | Vesicoureteral reflux | None | F | Polish | 1 yr | Normal renal function |
| RP3 | B–D | Renal hypodysplasia | Left | Vesicoureteral reflux | None | M | Polish | 4 mo | Normal renal function |
*
A total of 1752 patients were included in the discovery cohort and 328 patients in the replication cohort. F denotes female, M male, and RP patients in the replication cohort.
†
According to the megabase coordinates from the Human Genome 19 release, the boundaries for the chromosome 22q11.2 deletions are from 18.9 to 21.5 mb for the region between LCR22 A and D, 20.7 to 21.5 mb for the region between B and D, 21.1 to 21.5 mb for the region between C and D, and 21.0 to 22.1 mb for the region between C and E.