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Bilateral split hand/foot malformation and inv(7)(p22q21.3).
  1. J M Cobben,
  2. J B Verheij,
  3. W H Eisma,
  4. P H Robinson,
  5. R P Zwierstra,
  6. B Leegte,
  7. S Castedo
  1. Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands.


    A boy with typical tetramelic split hands and feet is described. In addition, there was a large arteriovenous malformation of the right arm. Chromosome studies showed a pericentric inversion of chromosome 7: 46,XY,inv(7)(p22q21.3). Inspection of the extremities and chromosome studies in the parents were normal. This case confirms the suggested localisation of a locus, important for early limb differentiation, on the long arm of chromosome 7, most probably in the chromosomal region 7q21.2-7q21.3. Previously reported cases are reviewed briefly.

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