Novel Unbalanced Translocation t(3;13)(q29;q34) in an Infant With Hydrocephalus
Though unbalanced translocations are highly individualized with varied phenotypes even among close relatives, this discussion of a proband and family members with translocation of chromosomes 3 and 13 contributes to published knowledge regarding these variants. We demonstrate the utility of online databases DECIPHER, OMIM, and Unique, as well as a translocation risk calculator, for understanding genetic anomalies and prognostic data for families affected by similar genetic variations.
Authors
- Ryan F. Bloomquist (ORCID: https://orcid.org/0000-0003-3514-8593)
- Teresa E. Fowler (ORCID: https://orcid.org/0000-0002-7220-0293)
- Anthony R. Gregg (ORCID: https://orcid.org/0000-0002-7225-040X)
Institutions
- WellStar Health System (US)
- University of South Carolina (US)
- Augusta University (US)
- Palmetto Health Richland (US)
- Augusta University Health (US)
Publication Details
- Journal
- Birth Defects Research
- Published
- 2025-08-01
- DOI
- https://doi.org/10.1002/bdr2.2517
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00