title: Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.
abstract: In a prospective study 94 individuals with mental retardation (MR) and dysmorphic features with normal conventional karyotypes were investigated by both subtelomeric FISH and high resolution CGH (HR-CGH) in order to compare the potential of the two techniques in this application. A total of 9.6% abnormalities were found with HR-CGH and subtelomeric FISH, with HR-CGH detecting 8.5% (95% CI: 4.4-15.9) and FISH 3.2% (95% CI: 1.2-9.0). Thus, the techniques complemented each other, however, the diagnostic yield appeared higher of HR-CGH than of subtelomeric FISH, as most aberrations were interstitial. Another 330 individuals with MR and dysmorphic features with normal conventional karyotypes were investigated by HR-CGH on a routine basis. When added to the analyses of the prospective study a total of 51/424 (12%; 95% CI: 9.3-15.5) abnormalities were found, of which the majority were interstitial. We conclude that HR-CGH is well suited for routine screening for cryptic chromosomal imbalances in patients with MR and dysmorphic features. It is likely that the use of the technique in this application will reinforce the effort of defining new syndromes.
authors.affiliation: Department of Clinical Genetics, 4052 Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen Ø, Denmark. markir@rh.dk
authors.forename: Maria
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: Søren
authors.initials: S
authors.lastname: Pedersen
authors.forename: Eigil
authors.initials: E
authors.lastname: Kjeldsen
authors.forename: Hanne
authors.initials: H
authors.lastname: Rose
authors.forename: Morten
authors.initials: M
authors.lastname: Dunø
authors.forename: Steen
authors.initials: S
authors.lastname: Kølvraa
authors.forename: Claes
authors.initials: C
authors.lastname: Lundsteen
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003718:Denmark; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009693:Nucleic Acid Hybridization / Q000379:methods*; D011446:Prospective Studies; D016615:Telomere / Q000235:genetics*