title: Bilateral split hand/foot malformation and inv(7)(p22q21.3).
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.
authors.affiliation: Department of Surgery, University Hospital and Faculty of Medicine, Groningen, The Netherlands.
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
authors.forename: J B
authors.initials: JB
authors.lastname: Verheij
authors.forename: W H
authors.initials: WH
authors.lastname: Eisma
authors.forename: P H
authors.initials: PH
authors.lastname: Robinson
authors.forename: R P
authors.initials: RP
authors.lastname: Zwierstra
authors.forename: B
authors.initials: B
authors.lastname: Leegte
authors.forename: S
authors.initials: S
authors.lastname: Castedo
mesh_terms: D002675:Child, Preschool; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male