Table 1 Clinical guidelines for screening the 22q11.2 deletion proposed by Monteiro et al. [22]

Any item from Column 1

At least two items from Column 2 OR one item from Column 2 and at least two items from Column 3

Two or more items from Column 3 and one from Column 2 OR at least four items from Column 3^a

A. Cardiac malformation with high predictive value for the deletion: Interruption of aortic arch type B, Truncus arteriosus and/or Ventricular Septal defect with pulmonary atresia (Tetralogy of Fallot with pulmonary atresia)

B. Neonatal hypocalcemia secondary to idiopathic hypoparathyreoidism

C. Other Conotruncal Heart defects: Classic Tetralogy of Fallot, Ventricular Septal Defect posterior malalignement, Ventricular Septal Defect Subarterial/Subpulmonary and/or Aortic Coarctation

D. Palatal alterations: Velopharyngeal Insufficiency, Overt or submucous cleft palate and/or cleft lip/palate

E. Immunodefficiency confirmed by labaratorial tests and/or thymic alterations (hypoplasia/aplasia)

F. Typical Face with four or more characteristic dysmorphisms, being at least three among the following: Long face, hooded eyelids, tubular nose or other form of typical nose, alar hypoplasia

G. Schizophrenia

H. Neurocognitive dysfunction: Neurodevelopmental delay, language development delay and/or learning disability

I. Cardiovascular abnormalities: Aortic arch alterations and/or pulmonary arterial tree alterations

J. Two or more suggestive dysmorphisms (> = 2 years-old) OR One or more suggestive dysmorphisms (<= 2 years-old)

K. Hypernasal tone of voice

L. Other cardiac defects: Other types of Ventricular Septal defect, Transposition of Great Arteries, Double right-outlet ventricle, Atrial septal defect and/or Patent ductus arteriosus

M. Other Palatal alterations: Isolated bifid uvula and/or Cleft lip

N. Genitourinary malformations