title: High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
abstract: A sensitive technique is needed for screening whole genome imbalances in dyschromosomal patients when G-banding shows normal karyotypes or apparently balanced translocations. In this study we performed highly sensitive comparative genomic hybridisation analysis on a number of such cases and revealed chromosomal imbalances in all.
authors.affiliation: Cytogenetic Laboratory, Department of Clinical Genetics, Juliane Marie Center, The National University Hospital, Copenhagen, Denmark. markir@rh.dk
authors.forename: M
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: H
authors.initials: H
authors.lastname: Rose
authors.forename: J
authors.initials: J
authors.lastname: Maahr
authors.forename: T
authors.initials: T
authors.lastname: Gerdes
authors.forename: M
authors.initials: M
authors.lastname: Bugge
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: P K
authors.initials: PK
authors.lastname: Jensen
authors.forename: J
authors.initials: J
authors.lastname: Wirth
authors.forename: C
authors.initials: C
authors.lastname: Lundsteen
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics; D004247:DNA / Q000032:analysis*; D015342:DNA Probes / Q000235:genetics; D005260:Female; D005333:Fetus; D005456:Fluorescent Dyes / Q000378:metabolism; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods
chemical_list: D015342:DNA Probes; D005456:Fluorescent Dyes; D004247:DNA