Objective:

To report on a male preterm infant with a derivative chromosome 10 due to a paternally inherited unbalanced translocation, leading to a 42.46 Mb duplication of 4q31.22–q35.2 and a 10.77 Mb deletion of 10q26.13–q26.3, along with associated clinical features.

Approach:

Key Findings:

• The patient exhibited severe postnatal linear growth restriction, delayed neurodevelopment, a giant umbilical hernia, bilateral renal hypoplasia, and relative overweight.
• Gene expression analysis confirmed reduced expression of several 10q26-related genes, including FGFR2, EMX2, WDR11, NSMCE4A, and EBF3, and identified additional genes implicated in developmental regulation and metabolic pathways.
• Transcriptomic analysis indicated dosage-associated effects aligned with the structural chromosomal imbalance.

Interpretation:

The case illustrates how extended terminal deletions of 10q can disrupt key structural and metabolic gene networks.

Limitations:

• The study is based on a single case, limiting the generalizability of findings regarding the specific contributions of each chromosomal segment to the clinical phenotype.
• Further research is needed to establish broader implications of the identified gene expression changes.

Conclusion:

This case represents the first transcriptomic characterization of a 10.77 Mb deletion in the 10q26.13–q26.3 region alongside a large terminal 4q duplication.

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