title: Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia.
abstract: OBJECTIVE
  The incidence of the 22q11.2 microdeletion among children who have at least two out of five major clinical criteria for 22q11.2 deletion syndrome.
  
  
  METHODS
  Prospective study.
  
  
  METHODS
  University Childrens Hospital in Belgrade, Serbia between 2005 and 2014.
  
  
  METHODS
  57 patients with clinical characteristics of 22q11.2 deletion syndrome.
  
  
  METHODS
  Standard G-banding cytogenetic analysis was performed in all children, and the 22q11.2 genomic region was examined using fluorescence in situ hybridization (FISH). For patients with no deletion detected by FISH, multiplex ligation-dependent probe amplification (MLPA) analysis was also done in order to detect cryptic deletions of this region and to analyze other genomic loci associated with phenotypes resembling the syndrome. A selected group of patients diagnosed to have 22q11.2 microdeletion by FISH underwent MLPA testing in order to characterize the size and position of deletion.
  
  
  METHODS
  The frequency of 22q11.2 microdeletion among children with at least two of the five major characteristics of 22q11.2 deletion syndrome (heart malformations, facial dysmorphism, T-cell immunodeficiency, palatal clefts and hypocalcemia/hypoparathyroidism).
  
  
  RESULTS
  Typical 22q11.2 microdeletion was detected in 42.1% of patients; heart malformation were identified in all of them, facial dysmorphism in 79.2%, immunological problems in 63.6%, hypocalcemia in 62.5% and cleft palate in 8.3%.
  
  
  CONCLUSIONS
  A higher detection rate compared to one-feature criterion is obtained when at least two major features of 22q11.2 deletion syndrome are taking into consideration. The criteria applied in this study could be considered by centers in low-income countries.
authors: *Faculty of Medicine, University of Belgrade; Department of Medical Genetics, University Childrens Hospital; Laboratory for Human Molecular Genetics, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade; Department of Cardiology, University Childrens Hospital; and Department of Hematology, University Childrens Hospital; Belgrade, Serbia. Correspondence to: Dr Goran Cuturilo, University Childrens Hospital, Medical Faculty, University of Belgrade, Tirsova 10, 11000 Belgrade, Serbia. udkgenetika@udk.bg.ac.rs.
authors: Goran
authors: G
authors: Cuturilo
authors: Danijela
authors: D
authors: Drakulic
authors: Ida
authors: I
authors: Jovanovic
authors: Aleksandar
authors: A
authors: Krstic
authors: Milan
authors: M
authors: Djukic
authors: Dejan
authors: D
authors: Skoric
authors: Marija
authors: M
authors: Mijovic
authors: Igor
authors: I
authors: Stefanovic
authors: Milena
authors: M
authors: Milivojevic
authors: Milena
authors: M
authors: Stevanovic
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D021141:Nucleic Acid Amplification Techniques; D011446:Prospective Studies; D055771:Serbia