Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways - Takeaways - MDSpire

Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways

  • By

  • Eva Teresa Töpfer

  • Marion Zähringer

  • Michael K. Baumgartner

  • Anne Ch. Garbe

  • Désirée Dunstheimer

  • Moneef Shoukier

  • Olena Karachun

  • Ulrike Walden

  • Cornelia Daumer-Haas

  • Michael C. Frühwald

  • Melanie L. Conrad

  • Victoria E. Fincke

  • Pascal D. Johann

  • Fabian B. Fahlbusch

  • June 18, 2026

  • 0 min

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  • 1

    The case involves a male preterm infant with a paternally inherited unbalanced translocation leading to 4q duplication and 10q deletion.

  • 2

    The infant exhibited severe postnatal growth restriction, delayed neurodevelopment, and multiple congenital anomalies including renal hypoplasia.

  • 3

    Genetic analyses revealed reduced expression of several genes associated with developmental and metabolic pathways in the deleted 10q region.

  • 4

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

  • 5

    Integrating transcriptomic data with clinical findings may enhance understanding of rare chromosomal disorders and inform management strategies.

Original Source(s)

Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways

  • by Eva Teresa Töpfer, Marion Zähringer, Michael K. Baumgartner, Anne Ch. Garbe, Désirée Dunstheimer, Moneef Shoukier, Olena Karachun, Ulrike Walden, Cornelia Daumer-Haas, Michael C. Frühwald, Melanie L. Conrad, Victoria E. Fincke, Pascal D. Johann, Fabian B. Fahlbusch

  • June 18, 2026

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