title: Screening of patients at risk for 22q11 deletion.
abstract: The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized diagnostic workup for selected groups of at risk patients. We prospectively investigated four cohorts of unselected patients referred because of 1) congenital heart defect (CHD), 2) palatal anomalies, 3) hypocalcaemia, 4) dysmorphic features suggestive of del 22q11.2. Fluorescence in situ hybridization analysis revealed deletion 22q11.2 in 9.4% (6/64) patients with CHD. From 18 patients referred because of the hypocalcaemia, six (33.3%) had 22q11.2 deletion. In the group of 31 children with dysmorphic traits, the diagnosis was confirmed in two (6.4%) patients. None of the 58 children with palatal anomalies showed evidence of 22q11.2 deletion.
  
  
  CONCLUSIONS
  Testing for the 22q11.2 microdeletion can be recommended in all patients with conotruncal heart defects and in patients with hypocalcaemia. It should be also considered in patients presenting only with dysmorphic traits suggestive of del 22q11.2, while screening in patients with cleft palate is not warranted.
authors.affiliation: Department of Medical Genetics and Department of Cardiology, Children's University Hospital, Zagreb, Croatia. ingeborg.barisic@kdb.hr
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Barisić
authors.forename: Leona
authors.initials: L
authors.lastname: Morozin Pohovski
authors.forename: Iskra
authors.initials: I
authors.lastname: Petković
authors.forename: Zeljko
authors.initials: Z
authors.lastname: Cvetko
authors.forename: Gordana
authors.initials: G
authors.lastname: Stipancić
authors.forename: Marijo
authors.initials: M
authors.lastname: Bagatin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome