Article
A novel acropectoral syndrome maps to chromosome 7q36.
Journal of medical genetics - 1 May 2001
Dundar M, Gordon T M, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A, Wilkinson A G, Holloway S, Goodman F R, Tolmie J L
Abstract excerpt
F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we report a six generation Turkish family with a related but distinct dominantly inherited acropectoral syndrome. All 22 affected subjects have soft tissue syndactyly of all fingers and all toes and 14 also...
Topics
- Abnormalities, Multiple
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- Female
- Haplotypes
- Humans
- Limb Deformities, Congenital
- Lod Score
- Male
- Microsatellite Repeats
- Mutation