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Novel Unbalanced Translocation t(3;13)(q29;q34) in an Infant With Hydrocephalus
Teresa E Fowler1, Anthony R Gregg2, Ryan F Bloomquist3
1Department of Ophthalmology, Wellstar-MCG Health, Augusta, Georgia, USA.
Birth Defects Research
|August 8, 2025
Summary
This study details a rare unbalanced translocation involving chromosomes 3 and 13 in a male infant, leading to partial trisomy 3q29 and monosomy 13q34. The findings highlight the complex genetic variations and associated developmental challenges.
Area of Science:
- Genetics
- Human Molecular Genetics
Background:
- Copy number variations (CNVs) in chromosomal regions 3q29 and 13q34 are documented with diverse phenotypic outcomes.
- Understanding these CNVs is crucial for diagnosing genetic disorders.
Observation:
- A male infant presented with prenatal hydrocephalus and intrauterine growth restriction.
- Genetic analysis revealed a 4.8 Mb gain at 3q29 and a 5.4 Mb loss at 13q33.3q34, indicating partial trisomy 3q29 and monosomy 13q34.
- Paternal balanced translocation was identified as the likely source of the unbalanced translocation.
Findings:
- The infant exhibited respiratory distress, low birth weight, hypotonia, coagulopathy, pelvocaliectasis, and macrocephaly at birth.
- Magnetic Resonance Imaging (MRI) revealed severe cortical thinning and white matter volume loss.
Implications:
- This case contributes to the understanding of rare unbalanced translocations and their varied phenotypes.
- Online databases (DECIPHER, OMIM, Unique) and risk calculators are valuable tools for genetic anomaly assessment and family counseling.
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