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Related Experiment Videos

Bilateral split hand/foot malformation and inv(7)(p22q21.3)

J M Cobben1, J B Verheij, W H Eisma

  • 1Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands.

Journal of Medical Genetics
|May 1, 1995
PubMed
Summary
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This study describes a boy with tetramelic split hands and feet and an arteriovenous malformation, linked to a chromosome 7 inversion. This finding helps pinpoint a gene crucial for limb development on chromosome 7.

Area of Science:

  • Human Genetics
  • Developmental Biology
  • Clinical Dysmorphology

Background:

  • Limb malformations, such as tetramelic split hand/foot, can arise from genetic factors influencing embryonic development.
  • Identifying specific genetic loci is crucial for understanding the etiology of congenital anomalies.

Observation:

  • A case report of a male infant presenting with typical tetramelic split hands and feet and a significant arteriovenous malformation of the right arm.
  • Karyotyping revealed a pericentric inversion on chromosome 7 (46,XY,inv(7)(p22q21.3)).
  • Parental chromosomal analysis and physical examinations were unremarkable.

Findings:

  • The chromosomal abnormality, specifically the inversion on chromosome 7, is associated with the observed limb malformations.
  • The findings support the localization of a critical locus for early limb differentiation to the long arm of chromosome 7, specifically region 7q21.2-7q21.3.

Related Experiment Videos

  • This case adds to the evidence linking chromosomal region 7q21.2-7q21.3 to the pathogenesis of limb developmental abnormalities.

    • Implications:

    • This research refines the understanding of the genetic basis of limb malformations.
    • The identified chromosomal region may harbor genes essential for normal limb patterning and development.
    • Further investigation into this region could lead to improved genetic counseling and diagnostic approaches for related congenital disorders.