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
	Learning difficulties/developmental delay	Hypotonia
	Cleft palate, velopharyngeal insufficiency or swallowing difficulty	Renal abnormalities or Potter sequence
	Hypocalcaemia	Psychiatric (especially bipolar) disorders
	Immunodeficiency or thymic hypoplasia	Family history of congenital cardiac defects