Deleted interval (see fig 1) | Common deletion* | I-III | II | IIIa HIRA | IIIb TBX1 | IIIb +IV | V CRKL | IV+ V | VI IGLV | VII GNAZ | VI + VII | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Proximally nested 1.5 Mb deletion covers columns 4–6 (headed II, IIIa, IIIb); common 3 Mb deletion covers columns 4–9. *According to Ryan et al.1 VPI, velopharyngeal insufficiency; TOF, tetralogy of Fallot; IAAB, interrupted aortic arch type B; VSD, ventricular septal defect; TAC2/3, truncus arteriosus communis type 2 or 3; A, minor facial anomalies; PA, pulmonary atresia; PAS, pulmonal artery stenosis; NA, not applicable. †Owing to severe hypoxic brain damage during heart surgery. | ||||||||||||||||||||||
Number of Patients | 558 | 1 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 2 | 4 | |||||||||||
Premature death | 8% | – | – | – | – | – | – | – | – | – | 1 | |||||||||||
Congenital heart defect | 75% | TOF | IAAB | TOF | – | VSD | PA-VSD | –, TOF | TAC2 | –, PAS | –, –, TAC3, VSD | |||||||||||
Hypocalcaemia | 60% | – | – | + | – | – | – | – | + | – | – | |||||||||||
Urogenital Anomalies | 36% | – | – | – | – | – | – | – | + | – | – | |||||||||||
VPI | 32% | + | ? | – | + | – | – | – | – | – | – | |||||||||||
Cleft palate | 14% | – | + | – | + | – | – | – | + | – | – | |||||||||||
Tracheomalacia/laryngomalacia | 3% | – | – | – | – | – | – | – | – | – | – | |||||||||||
Choanal stenosis/atresia | 1% | – | – | – | – | – | – | – | – | – | 2 | |||||||||||
Iris coloboma | – | + | – | – | – | – | – | – | – | – | ||||||||||||
Profound immunodeficiency | <1% | – | – | – | – | – | – | – | – | – | 1 | |||||||||||
Psychosis | 18% | – | NA | NA | + | – | – | 1 | NA | – | – | |||||||||||
Mental retardation | 38% | NA† | – | – | + | – | ? | 1 | (+) | – | – | |||||||||||
Short stature | 36% | – | + | – | – | – | – | – | + | – | – | |||||||||||
Typical face | ? | + | – | – | + | – | – | (+) | A | (A) | A |