Article
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.
European journal of human genetics : EJHG - 1 Jan 2000
Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, Marsilio T, Rocchi M, Gallenga P E, Palka G, Dallapiccola B
Abstract excerpt
Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardat...
Topics
- Child
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 8
- Cloning, Molecular
- Duane Retraction Syndrome
- Female
- Gene Rearrangement
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Mutagenesis, Insertional
- Sequence Deletion