Features of the DGS/VCFS and the HDR syndrome spectrum of nine patients with structural abnormality of 10p
| Patient | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| WAB | WON | C2 | DW | CH92-092 | C1 | MEG | AMS | MAR | ||
| Reference | 2, this report | This report | 11, 12 | 6 | 5 | 11 | 14 | 3 | 13 | |
| Sex | M | F | F | M | F | M | F | F | M | |
| 10p aberration | del(10) | del(10) | del(10) | del(10) | del(10) | ins(8;10) | del(10) | del(10) | del(10) | |
| (p13) | (p13) | (p13) | (p13) | (p13) | ins(10;8) | (p12p13) | (p12p13) | (p11p13) | ||
| Cardiac defect1-150 | VSD | − | − | − | − | − | VSD,ASD | − | ASD | |
| Anomaly of face | + | + | + | + | + | + | + | + | + | |
| T cell abnormality | − | − | − | + | + | − | + | − | + | |
| Cleft palate | − | − | − | − | − | − | + | − | − | |
| Hypocalcaemia/hypoparathyr | + | + | + | + | + | + | − | − | + | |
| Deafness1-151 | s | s(r −85 dB, l −50 dB) | s (−70 dB) | c (severe) | ? | s (−85 dB) | − | − | + | |
| Renal defect1-152 | DK(r) | RI | AK(r) | − | DK(r) | AK(l) | − | − | HN | |
| VR(l), | DK(l) | |||||||||
| DGS/VCFS spectrum | CAH | AH | AH | ATH | ATH | A | CATC | A | CATH | |
| HDR spectrum | HDR | HDR | HDR | HD | HR | HDR | − | − | HDR | |
| Molecular findings1-153 | DGCR2 | DGCR2 | DGCR2 | DGCR2 | DGCR2 | DGCR2 | DGCR2 | DGSCR2 | DGSCR2 | |
| partially deleted | present | present | present | present | present | deleted | deleted | deleted | ||
↵1-150 ASD = atrial septal defect, TOF = tetralogy of Fallot, VSD = ventricular septal defect.
↵1-151 If known, the type of deafness is given: c = conductive, s = sensorineural.
↵1-152 AK = aplastic kidney, DK = dysplastic kidney, HN = hydronephrosis, RI = renal insufficiency, VR = vesicoureteral reflux, l = left side, r = right side.
↵1-153 The molecular data are presented in fig 2.