Related Experiment Video
Updated: Jan 11, 2026
12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
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Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH
Laura M Bryant1, Rose Hokanson2, Scott E Hickey2,3
1The Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA.
Clinical Case Reports
|November 17, 2025
Abstract:
While the standard diagnostic test for suspected 22q copy number disorders is by chromosomal microarray, this case highlights the importance of utilizing FISH to localize allelic copy number when there is a family history of deletion/duplication syndrome for accurate recurrence risk assessment.
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