Article
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
American journal of medical genetics - 7 Jul 1998
Taine L, Goizet C, Wen Z Q, Petrij F, Breuning M H, Aymé S, Saura R, Arveiler B, Lacombe D
Abstract excerpt
The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified...
Topics
- CREB-Binding Protein
- Chromosome Deletion
- Chromosomes, Human, Pair 16
- Cosmids
- DNA Probes
- Female
- France
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Mutation
- Nuclear Proteins
- Rubinstein-Taybi Syndrome
- Trans-Activators