Combinations of clinical features that should lead to consideration of FISH analysis for a possible 22q11 deletion
| Column A | Column B | Column C | |
| The presence of one of the following | Two or more of the following core features | One core feature plus one of these associated features | |
| Conotruncal cardiac anomaly (such as Fallot's tetralogy, interrupted aortic arch, truncus arteriosus, or major aorto-pulmonary collateral arteries) | Characteristic facial abnormalities (see text) (86%) | Long slender fingers and hands | |
| Non-conotruncal congenital cardiac defect | Short stature | ||
| Learning difficulties/developmental delay (74%) | Hypotonia | ||
| Parent of an affected child | Cleft palate, velopharyngeal insufficiency, or  swallowing difficulty (59%) | Renal abnormalities or Potter sequence | |
| Hypocalcaemia (54%) | Psychiatric (especially bipolar) disorders | ||
| Immunodeficiency or thymic hypoplasia (47%) | Family history of congenital cardiac defects | ||
Figures indicated in column B are frequencies of individual features ascertained in our series of affected cases.
FISH, fluorescent in situ hybridisation.