Are Classical Cytogenetic Studies Still Necessary in Today's World of aCGH?

2010

Warren Sanger
[email protected]
402-559-6328

We think so! In the last 20 years, we have witnessed the birth of FISH and aCGH technologies. With the advancement of these technologies, alterations in the algorithm of genetic testing have been suggested. Concurrent classical cytogenetics (G-bands) and aCGH studies have been discouraged by some and aCGH investigations have been preferred over conventional cytogenetics by some clinical genetics practitioners. Our lab has determined that both are still necessary for accurate and complete identification of abnormalities in some patients. In cases which are referred for aCGH only and resulting in abnormal findings, we often perform G-band analysis to resolve the accurate description of the chromosome abnormality. While both technologies have their advantages and disadvantages, aCGH offers a much higher resolution in detecting cryptic deletions and duplications; however, aCGH studies cannot detect low level mosaicism and balanced rearrangements such as translocations, inversions, and insertions. The detection of these balanced rearrangements is very important for a family?s reproductive decisions as well as for the overall clinical picture. In the last three years, our lab has studied numerous cases with complex chromosome rearrangements that were either not detected by aCGH or the aCGH did not tell the whole story. Of these, we present six cases with complex chromosomal findings where aCGH detected only a partial picture.

Conference presentations and posters presented

Professionals, Students

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