Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel
| Autor: | Cathy M. Tuck-Muller, Julie R. Korenberg, Xiao Ning Chen, Jose E. Martinez, Wladimir Wertelecki, Gail Stetten, Barbara K. Goodman, Shibo Li |
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| Rok vydání: | 2001 |
| Předmět: |
medicine.medical_specialty
Bacterial artificial chromosome medicine.diagnostic_test Clone (cell biology) Cytogenetics Computational biology Chromosomal rearrangement Biology medicine.disease Bac clone Chromosome (genetic algorithm) medicine Trisomy Genetics (clinical) Fluorescence in situ hybridization |
| Zdroj: | Genetics in Medicine. 3:126-131 |
| ISSN: | 1098-3600 |
| Popis: | Purpose: To illustrate the use of bacterial artificial chromosome (BAC) clone panels for molecular cytogenetic analysis of complex chromosome rearrangements (CCRs). Methods: High resolution cytogenetics followed by fluorescence in situ hybridization (FISH) analysis using chromosome band-specific BAC probes, in addition to commercially available probes. Results: High resolution cytogenetics in conjunction with FISH using commercially available probes proved inadequate to resolve problems in characterizing a balanced CCR in the mother of a patient who had inherited an unbalanced form of the CCR. Accurate interpretation of the CCR and the unbalanced rearrangement in the patient as trisomy 7p12.2→p21.3 was accomplished only through use of the BAC clone panel. Conclusion: Use of BAC clone panels can enhance the power of FISH analysis in defining chromosome rearrangements that cannot be resolved by high resolution chromosome analysis. |
| Databáze: | OpenAIRE |
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