Article
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.
Genomics - 1 Jan 1994
Lewanda A F, Cohen M M, Jackson C E, Taylor E W, Li X, Beloff M, Day D, Clarren S K, Ortiz R, Garcia C
Abstract excerpt
Saethre-Chotzen, Crouzon, and Jackson-Weiss syndromes are craniosynostotic autosomal dominant conditions with a wide variability in expression. Saethre-Chotzen has been mapped to chromosome 7p by L. A. Brueton et al. (1992, J. Med. Genet. 29: 681-685), the Greig cephalopolysyndactyly gene was identified at 7p13 by A. Vortkamp et al. (1991, Nature 352: 539-540), and many cases of craniosynostosis have been...
Topics
- Abnormalities, Multiple
- Alleles
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- Craniosynostoses
- Genetic Markers
- Haplotypes
- Humans
- Infant, Newborn
- Pedigree