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...

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Bibliographic Details
Published in:Journal of medical genetics 1995-05, Vol.32 (5), p.375-378
Main Authors: Cobben, J M, Verheij, J B, Eisma, W H, Robinson, P H, Zwierstra, R P, Leegte, B, Castedo, S
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
chromosome 7
Chromosome Inversion
Chromosomes, Human, Pair 7 - genetics
congenital defects
Diseases of the osteoarticular system
Foot Deformities, Congenital - genetics
Genes, Dominant
Hand Deformities, Congenital - genetics
Humans
inversion
Karyotyping
Male
malformations
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
neonates
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.32.5.375