Table 1 shows clinical features that should lead to consideration of FISH analysis for possible 22q11.2 microdeletion (adapted from Tobias, et al 1999) [25]
Column A | Column B | Column C |
|---|---|---|
Presence of one of the following | Presence of two or more of the following core features | Presence of 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 viz. broad bulbous nose, square shaped tip of nose, short philtrum, telecanthus, slanting eyes, low set ears, etc | Long slender fingers and hands |
Parent of an affected child | Non-conotruncal congenital cardiac defect | Short stature |
| Â | Learning difficulties/developmental delay | Hypotonia |
| Â | Cleft palate, velopharyngeal insufficiency or swallowing difficulty | Renal abnormalities or Potter sequence |
| Â | Hypocalcaemia | Psychiatric (especially bipolar) disorders |
| Â | Immunodeficiency or thymic hypoplasia | Family history of congenital cardiac defects |