Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways - Scorecard - 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 Scorecard: Chromosomal Anomalies in a Preterm Infant: Evidence of Disrupted Developmental and Metabolic Pathways from 4q Duplication and 10q Deletion

At a Glance

CategoryDetail
Condition
Key MechanismsDisrupted developmental and metabolic pathways due to chromosomal imbalances
Target Population
Care Setting

Key Highlights

  • Case of a male preterm infant with unbalanced translocation t(4;10)
  • Presented with severe postnatal growth restriction and developmental delay
  • Genetic analysis revealed significant chromosomal duplications and deletions
  • Identified reduced expression of key genes associated with developmental regulation

Guideline-Based Recommendations

Diagnosis

  • Utilize chromosomal microarray and fluorescence in situ hybridization for genetic analysis

Management

  • Individualized management strategies based on genetic findings

Monitoring & Follow-up

  • Longitudinal clinical follow-up to assess growth and development

Risks

  • Increased risk of growth restriction and developmental delays

Patient & Prescribing Data

Nutritional support and management of associated conditions

Clinical Best Practices

  • Integrate functional transcriptomics with clinical and cytogenetic data

Related Resources & Content

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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