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