High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.
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.
Kirchhoff
M
M
Cytogenetic Laboratory, Department of Clinical Genetics, Juliane Marie Center, The National University Hospital, Copenhagen, Denmark. markir@rh.dk
Rose
H
H
Maahr
J
J
Gerdes
T
T
Bugge
M
M
Tommerup
N
N
Tümer
Z
Z
Lespinasse
J
J
Jensen
P K
PK
Wirth
J
J
Lundsteen
C
C
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
D015342:DNA Probes; D005456:Fluorescent Dyes; D004247:DNA