Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long‐Standing Clinical Utility of <scp>FISH</scp>
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.
Authors
- Laura Bryant (ORCID: https://orcid.org/0000-0001-8483-8940)
- Shalini C. Reshmi (ORCID: https://orcid.org/0000-0003-1491-077X)
- Bianca Zapanta (ORCID: https://orcid.org/0009-0001-9180-1107)
- Scott E. Hickey (ORCID: https://orcid.org/0000-0001-6098-2008)
- Jesse M. Hunter (ORCID: https://orcid.org/0000-0002-5315-5693)
- Rose Hokanson
Institutions
- Nationwide Children's Hospital (US)
- The Ohio State University (US)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1002/ccr3.71483
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00