Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel.
作者信息
Tuck-Muller C M, Goodman B K, Li S, Martinez J E, Chen X N, Wertelecki W, Korenberg J R, Stetten G
机构信息
Department of Medical Genetics, University of South Alabama, CCCB 286, 307 University Boulevard, Mobile, AL 36688-0002, USA.
出版信息
Genet Med. 2001 Mar-Apr;3(2):126-31.
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.
Zotero 插件