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

Institutions

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
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Novel Unbalanced Translocation t(3;13)(q29;q34) in an Infant With Hydrocephalus

Ryan F. Bloomquist, Teresa E. Fowler, Anthony R. Gregg
Birth Defects Research
Genomic variations and chromosomal abnormalities
article

Novel Unbalanced Translocation t(3;13)(q29;q34) in an Infant With Hydrocephalus

Ryan F. Bloomquist, Teresa E. Fowler, Anthony R. Gregg
article en

Abstract

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.

Birth Defects ResearchVol. 117(8)
WellStar Health System (US), University of South Carolina (US), Augusta University (US), Palmetto Health Richland (US), Augusta University Health (US)
Life below water
Openalex Percentile: Top 78%
Genomic variations and chromosomal abnormalities
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.