Table 1.

Characteristics of the children with microdeletion 22q11.2

Patients	Cardiac defect	Extra cardiac defects
1	ToF+ASDII+MAPCAS	Micrognathia, palatopharyngeal insufficiency, thymic and parathyroid gland hypoplasia, hypocalcaemia, choanal atresia, club foot, ectopic kidney
2	ASDII+VSD	Thymic gland hypoplasia
3	VSD	Thymic gland hypoplasia
4	ToF	Blepharophimosis, prominent and bulbous nose, narrow lip red, dysplastic ears, arachnodactylia, foot deformation
5	ASDII	Blepharophimosis, antimongoloid arrangement of lid slits, narrow lip red, narrow lips, micrognathia, low-set ears, dysplastic ears, palatopharyngeal insufficiency, arachnodactylia, mild mental retardation, ostium of the ureter atresia, cryptorchism
6	ToF	Hypertelorism, blepharophimosis, prominent and bulbous nose, narrow lip red, micrognathia, dysplastic ears, club foot
7	VSD+PDA+FO	Micrognathia, retrognathia, dysplastic ears, hypocalcaemia, arachnodactylia, increased muscular tension, incorrect distribution of palm fingers
8	ToF	Narrow lip red, low set ears, arachnodactylia
9	ToF	Dysplastic ears, arachnodactylia
10	ToF	Prominent and bulbous nose, micrognathia, low set ears, dysplastic ears
11	ASDII+VSD	Blepharophimosis, antimongoloid arrangement of lid slits, broad nose, micrognathia, retrognathia, dysplastic ears, arachnodactylia, delayed psychomotor development
12	ToF	Antimongoloid arrangement of lid slits, microphthalmia, prominent and bulbous nose, dysplastic ears, thymic gland hypoplasia, arachnodactylia
13	VSD	Micrognathia, dysplastic ears, arachnodactylia

ASDII - atrial septal defect II; FO - foramen ovale; MAPCAS - major aortopulmonary collaterals; PDA - patent ductus arteriosus; ToF - tetralogy of Fallot; VSD - ventricular septal defect;