title: Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features.
abstract: BACKGROUND
  Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features.
  
  
  RESULTS
  In the present article we describe the clinical advantages of molecular cytogenetic approach (comparative genomic hybridization arrays and single nucleotide polymorphism arrays) in the diagnostic procedure of two children with developmental delay, dysmorphic features and additional morphological phenotypes. Additionally, we demonstrate the necessity of fluorescent in situ hybridization utilisation to identify the localisation and underlying mechanism of detected chromosomal rearrangement.
  
  
  CONCLUSIONS
  Two types of chromosomal abnormalities were identified and confirmed using different molecular genetic approaches. Comparative genomic hybridization arrays and single nucleotide polymorphism arrays are hereby presented as important methods to identify chromosomal imbalances in patients with developmental delay and dysmorphic features. We emphasize the importance of molecular genetic testing in patients' parents for the demonstration of the origin and clinical importance of the aberrations prior determined in the patients. The results obtained using molecular cytogenetic high resolution techniques methods are the cornerstone for proper genetic counselling to the affected families.
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia.
authors.forename: Sara
authors.initials: S
authors.lastname: Bertok
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia.
authors.forename: Mojca
authors.initials: M
authors.lastname: Žerjav Tanšek
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia.
authors.forename: Primož
authors.initials: P
authors.lastname: Kotnik
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia.
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
authors.affiliation: University Medical Centre Ljubljana, Clinical Institute of Medical Genetics, Department of Obstetrics and Gynaecology, Slajmerjeva 4,1000 Ljubljana, Slovenia.
authors.forename: Marija
authors.initials: M
authors.lastname: Volk
authors.affiliation: Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", via dell'Istria, 65/1, 34137 Trieste, Italy.
authors.forename: Vanna
authors.initials: V
authors.lastname: Pecile
authors.affiliation: Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", via dell'Istria, 65/1, 34137 Trieste, Italy.
authors.forename: Lisa
authors.initials: L
authors.lastname: Cleva
authors.affiliation: Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", via dell'Istria, 65/1, 34137 Trieste, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia.
authors.forename: Jernej
authors.initials: J
authors.lastname: Kovač
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia.
authors.forename: Tinka
authors.initials: T
authors.lastname: Hovnik
keywords: CGH-array; FISH; SNP-array; copy number variations