Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways - Report - 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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Clinical Report: Chromosomal Anomalies in a Preterm Infant

Overview

This report details a case of a preterm infant with a 4q duplication and 10q deletion due to a paternal unbalanced translocation. The findings highlight significant disruptions in developmental and metabolic pathways linked to these chromosomal anomalies.

Background

Distal 4q duplication and 10q deletion syndromes are rare chromosomal abnormalities that can lead to complex clinical presentations. Understanding these conditions is crucial for accurate diagnosis and management, as they can significantly impact growth and neurodevelopment in affected infants.

Data Highlights

Genetic analyses revealed a 42.46 Mb duplication of 4q31.22–q35.2 and a 10.77 Mb deletion of 10q26.13–q26.3. Gene expression analysis confirmed reduced expression of multiple genes associated with developmental and metabolic pathways.

Key Findings

  • The patient exhibited severe postnatal linear growth restriction and delayed neurodevelopment.
  • Genetic analysis confirmed a 42.46 Mb duplication of chromosome 4 and a 10.77 Mb deletion of chromosome 10.
  • Reduced expression was noted for genes such as FGFR2, EMX2, and EBF3, which are implicated in developmental regulation.
  • This case represents the first transcriptomic characterization of a 10q26 deletion alongside a large 4q duplication.
  • Transcriptomic changes were regionally aligned with the structural chromosomal imbalance.

Clinical Implications

The findings underscore the importance of integrating genetic analysis with clinical assessments in cases of chromosomal abnormalities. This approach may enhance understanding of the phenotypic manifestations and guide individualized management strategies.

Conclusion

This case illustrates the significant impact of chromosomal anomalies on development and metabolism in a preterm infant, emphasizing the need for comprehensive genetic evaluation in similar cases.

Related Resources & Content

  1. Author(s)/Org, Source, Year -- Title
  2. Frontiers in Pediatrics — 1q25.3–q32.1 deletion causing multisystem developmental delay: a case report and literature review
  3. BMC Pregnancy and Childbirth — Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations
  4. Bone Marrow Transplantation — Donor-derived del[20q] following allogeneic-hematopoietic cell transplantation: a case with 26-year follow-up and literature review
  5. Frontiers in Endocrinology — A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization
  6. Society for Maternal-Fetal Medicine Consult Series #41
  7. Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array | Molecular Cytogenetics | Full Text
  8. National Rapid Genome Sequencing in Neonatal Intensive Care | Pediatrics | JAMA Network Open | JAMA Network

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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