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Article

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

Birth defects research - 1 Aug 2025

Fowler Teresa E, Gregg Anthony R, Bloomquist Ryan F

Abstract excerpt

BACKGROUND: Copy number variations in chromosomal segments 3q29 and 13q34 are described in the literature, with varying reported phenotypic findings. CASE: We report the case of a male proband found to have prenatal hydrocephalus and intrauterine growth restriction at 32 weeks gestation. Genetic testing revealed a gain of a 4.8 megabase (Mb) region of 3q29 and a loss of a 5.4 Mb region of 13q33.3q34, yielding...

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Share to Chromosomes, Human, Pair 13
Share to Chromosomes, Human, Pair 3
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Growth Retardation

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Identifiers

PMID: 40778601
DOI: 10.1002/bdr2.2517

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