title: 4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome.
abstract: Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features. We present a boy born from unrelated parents with a de novo 4q34.1-q35.2 deletion and clinical features resembling 22q11.2 deletion syndrome. To the best of our knowledge, this is the first reported patient with 4q34-q35 deletion and phenotype resembling 22q11.2 deletion syndrome without fifth finger anomalies as a specific feature of 4q- syndrome. G-banding karyotyping disclosed the deletion, which was further delineated by microarray comparative genomic hybridization. Fluorescence in situ hybridization and multiplex ligation-dependent probe amplification analyses did not reveal rearrangements of 22q11.2 region. MLPA confirmed the deletion within the 4q35.2 region.
  
  
  CONCLUSIONS
  Given the considerable clinical overlaps between the 22q11.2 deletion syndrome and clinical manifestation of the patient described in this study, we propose that region 4q34.1-q35.2 should be considered as another region associated with phenotype resembling 22q11.2 deletion syndrome. We also propose that distal 4q deletions should be considered in the evaluation of patients with phenotypic manifestations resembling 22q11.2 deletion syndrome in whom no 22q11.2 microdeletion was detected, even in the absence of distinctive fifth finger anomalies. Additionally, we underline the importance of applying array CGH that enables simultaneous genome-wide detection and delineation of copy number changes (e.g., deletions and duplications).
authors.affiliation: Faculty of Medicine, University of Belgrade, Belgrade, Serbia. udkgenetika@udk.bg.ac.rs
authors.forename: Goran
authors.initials: G
authors.lastname: Cuturilo
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Krstic
authors.forename: Danijela
authors.initials: D
authors.lastname: Drakulic
authors.forename: Ida
authors.initials: I
authors.lastname: Jovanovic
authors.forename: Vojislav
authors.initials: V
authors.lastname: Parezanovic
authors.forename: Milena
authors.initials: M
authors.lastname: Stevanovic
mesh_terms: D058165:22q11 Deletion Syndrome; D001013:Aorta, Thoracic / Q000002:abnormalities; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics; D002894:Chromosomes, Human, Pair 4; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D055771:Serbia; D013771:Tetralogy of Fallot