Work

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long‐Standing Clinical Utility of FISH

Year: 2025

Type: article

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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71483

Authors: Laura M. Bryant, Rose Hokanson, Scott E. Hickey, Bianca Zapanta, Jesse Hunter, Shalini C. Reshmi

Institutions: Nationwide Children's Hospital, The Ohio State University

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820