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  • Title: Bilateral split hand/foot malformation and inv(7)(p22q21.3).
    Author: Cobben JM, Verheij JB, Eisma WH, Robinson PH, Zwierstra RP, Leegte B, Castedo S.
    Journal: J Med Genet; 1995 May; 32(5):375-8. PubMed ID: 7616545.
    Abstract:
    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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