Bilateral split hand/foot malformation and inv(7)(p22q21.3).
- 1 May 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (5) , 375-378
- https://doi.org/10.1136/jmg.32.5.375
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.Keywords
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