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Updated: Jul 13, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel
C M Tuck-Muller1, B K Goodman, S Li
1Department of Medical Genetics, University of South Alabama, CCCB 286, 307 University Boulevard, Mobile, AL 36688-0002, USA.
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.
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