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

From: Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

Column 1 – Absolute indications for confirmatory testing Column 2 – Core features of the 22q11.2DS Column 3 – Associated features of the 22q11.2DS
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 3a
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
  1. a Patients younger than 1 year-old: One or more items from Column 3 and at least one item from Column 2 OR four or more items from Column 3 a Patients younger than 1 year-old: One or more items from Column 3 and at least one item from Column 2 OR four or more items from Column 3