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.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Chromosome Aberrations / genetics*
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Chromosome Banding
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Chromosome Disorders
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Congenital Abnormalities / genetics
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DNA / analysis*
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DNA Probes / genetics
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Female
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Fetus
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Fluorescent Dyes / metabolism
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Genetic Testing
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Humans
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In Situ Hybridization, Fluorescence
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Intellectual Disability / genetics
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Karyotyping
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Male
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Nucleic Acid Hybridization / methods
Substances
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DNA Probes
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Fluorescent Dyes
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DNA