High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F05%3A00014609" target="_blank" >RIV/00216224:14310/05:00014609 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities
Original language description
Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developedmetod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features.
Czech name
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Czech description
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Publication year
2005
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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