@article{13e443af98c34f1bbe7f9564e054b7bd,
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.",
keywords = "Chromosome Aberrations/genetics, Chromosome Banding, Chromosome Disorders, Congenital Abnormalities/genetics, DNA/analysis, DNA Probes/genetics, Female, Fetus, Fluorescent Dyes/metabolism, Genetic Testing, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability/genetics, Karyotyping, Male, Nucleic Acid Hybridization/methods",
author = "M Kirchhoff and H Rose and J Maahr and T Gerdes and M Bugge and N Tommerup and Z T{\"u}mer and J Lespinasse and Jensen, {P K} and J Wirth and C Lundsteen",
year = "2000",
month = sep,
doi = "10.1038/sj.ejhg.5200512",
language = "English",
volume = "8",
pages = "661--8",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "9",
}