title: Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.
abstract: Cryptic chromosome aberrations are a common cause of idiopathic mental retardation and multiple congenital malformations syndromes (MR/MCM).
  
  
  METHODS
  This study describes results and compares three methods for detection of submicroscopic chromosome aberrations in 76 children with MR/MCM and normal routine G-banded karyotype.
  
  
  RESULTS
  Cryptic chromosome aberrations were detected in 15 patients (19.7%): in 3 of 19 patients (15.8%) by subtelomeric fluorescent in situ hybridization (FISH), in 5 of 47 patients (10.6%) by Multiplex Ligation Dependent Probe Amplification (MLPA) and in 7 of 23 patients (30.4%) by array-Comparative Genome Hybridization (array-CGH). Seven deletions, four duplications and four complex rearrangements have been diagnosed in the present study. Six were de novo and 2 were inherited from a parent carrier of balanced translocation.
  
  
  CONCLUSIONS
  We observed a slightly higher imbalance incidence compared to the literature. Among these aberrations there were well known syndromes as well as some rare variants.
  
  
  CONCLUSIONS
  This study confirms the utility of molecular-cytogenetic screening in patients with MR/MCM. We suggest array-CGH as the most reliable technique with a high diagnostic yield.
authors.affiliation: Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Bulgaria. radka_stoeva@yahoo.com
authors.forename: Radka E
authors.initials: RE
authors.lastname: Stoeva
authors.forename: Liliana I
authors.initials: LI
authors.lastname: Grozdanova
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Maria
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Ivan S
authors.initials: IS
authors.lastname: Ivanov
authors.forename: Iliana H
authors.initials: IH
authors.lastname: Patcheva
authors.forename: Boyan I
authors.initials: BI
authors.lastname: Dimitrov
authors.forename: Tsanyu B
authors.initials: TB
authors.lastname: Krastev
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Linev
authors.forename: Margarita T
authors.initials: MT
authors.lastname: Stefanova
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D025202:Molecular Diagnostic Techniques