From: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects
 | pUPD | IC1 | IC2 | Total |
---|---|---|---|---|
Facial naevus flammeus | 21.1% (40/190) | 3.7% (7/190) | 75.3% (143/190) | 73.1% (190/260) |
Diastasis recti | 33.3% (14/42) | 23.8% (10/42) | 42.9% (18/42) | 72.4% (42/58) |
Organomegaly | 38.3% (51/133) | 16.5% (22/133) | 45.1% (60/133) | 72.3% (133/184) |
Macroglossia | 22.5% (92/408) | 8.1% (33/408) | 69.4% (283/408) | 72.2% (408/565) |
Polyhydramnios | 24.4% (19/78) | 3.8% (3/78) | 71.8% (56/78) | 71.6% (78/109) |
Exomphalos | 6.9% (12/173) | 1.7% (3/173) | 91.3% (158/173) | 70.0% (173/247) |
Prognathism | 22.0% (11/50) | 10.0% (5/50) | 68.0% (34/50) | 67.6% (50/74) |
Ear creases/pits | 17.9% (47/263) | 6.8% (18/263) | 75.3% (198/263) | 66.8% (263/394) |
Maxillary hypoplasia | 29.4% (20/68) | 11.8% (8/68) | 58.8% (40/68) | 65.4% (68/104) |
Macrosomia | 29.7% (80/269) | 8.2% (22/269) | 62.1% (167/269) | 64.4% (269/418) |
Neonatal hypoglycaemia | 28.9% (58/201) | 8.5% (17/201) | 62.7% (126/201) | 62.4% (201/322) |
Umbilical hernia | 33.8% (47/139) | 10.8% (15/139) | 55.4% (77/139) | 59.9% (139/232) |
Inguinal hernia | 18.2% (4/22) | 0.0% (0/22) | 81.8% (18/22) | 59.5% (22/37) |
Congenital heart defects | 18.0% (9/50) | 10.0% (5/50) | 72.0% (36/50) | 55.6% (50/90) |
Embryonal tumours | 43.8% (7/16) | 37.5% (6/16) | 18.8% (3/16) | 48.5% (16/33) |
Hemihypertrophy | 57.3% (98/171) | 7.6% (13/171) | 35.1% (60/171) | 38.2% (171/448) |