title: Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.
abstract: BACKGROUND
  Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases.
  
  
  METHODS
  We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ascertained by developmental delay or intellectual disability, associated with congenital malformations, and/or facial dysmorphisms.
  
  
  RESULTS
  Ten cryptic chromosomal anomalies have been identified in the whole cohort (13,16%), 8 in the group of patients characterized by developmental delay or intellectual disability associated with congenital malformations and facial dysmorphisms, 2 in patients with developmental delay or intellectual disability and facial dysmorphisms only.
  
  
  CONCLUSIONS
  We demonstrate that a careful clinical examination is a very useful tool for pre-selection of patients for genomic analysis, clearly enhancing the chromosomal anomaly detection rate. Clinical features of most of these patients are consistent with the corresponding emerging chromosome phenotypes, pointing out these new clinical syndromes associated with specific genomic imbalances.
authors.affiliation: Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy. margherita.cirillosilengo@unito.it.
authors.forename: Elga F
authors.initials: EF
authors.lastname: Belligni
authors.forename: Elisa
authors.initials: E
authors.lastname: Biamino
authors.forename: Cristina
authors.initials: C
authors.lastname: Molinatto
authors.forename: Jole
authors.initials: J
authors.lastname: Messa
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Giovanni B
authors.initials: GB
authors.lastname: Ferrero
authors.forename: Margherita Cirillo
authors.initials: MC
authors.lastname: Silengo