title: Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilities.
abstract: Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA method with two kits (SALSA P070-B1 and P036-E1). The MLPA screening revealed subtelomeric chromosome aberrations in four cases (5%). The aberrations detected were: 1p deletion, 1p deletion combined with 12q duplication, 4p deletion, and 9p deletion combined with 15q duplication. The deletions detected were classified as causative for the patients' observed phenotypes. This study confirms the high frequency of subtelomeric rearrangements in unexplained DD/ID and reinforces the argument for routine subtelomeric screening in order to get a correct diagnosis, establish genotype-phenotype correlations and offer accurate genetic counseling.
authors.affiliation: Institutes of Human Genetics, University of Belgrade Faculty of Medicine, Belgrade, Serbia. tatjanadamnjanovic@yahoo.com.
authors.forename: Tatjana
authors.initials: T
authors.lastname: Damnjanovic
authors.forename: Goran
authors.initials: G
authors.lastname: Cuturilo
authors.forename: Nela
authors.initials: N
authors.lastname: Maksimovic
authors.forename: Nikola
authors.initials: N
authors.lastname: Dimitrijevic
authors.forename: Vesna
authors.initials: V
authors.lastname: Mitic
authors.forename: Biljana
authors.initials: B
authors.lastname: Jekic
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Lukovic
authors.forename: Vera
authors.initials: V
authors.lastname: Bunjevacki
authors.forename: Tatjana
authors.initials: T
authors.lastname: Varljen
authors.forename: Valerija
authors.initials: V
authors.lastname: Dobricic
authors.forename: Ida
authors.initials: I
authors.lastname: Jovanovic
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostic
authors.forename: Ivana
authors.initials: I
authors.lastname: Novakovic
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002894:Chromosomes, Human, Pair 4; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D055771:Serbia; D016615:Telomere / Q000235:genetics*