Article
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2012
Levy Brynn, Tegay David, Papenhausen Peter, Tepperberg James, Nahum Odelia, Tsuchida Tammy, Pletcher Beth A, Ala-Kokko Leena, Baker Stuart, Frederick Barbara, Hirschhorn Kurt, Warburton Peter, Shanske Alan
Abstract excerpt
PURPOSE: The aim of this study was to characterize the clinical phenotype of patients with tetrasomy of the distal 15q chromosome in the form of a neocentric marker chromosome and to evaluate whether the phenotype represents a new clinical syndrome or is a phenocopy of Shprintzen-Goldberg syndrome. METHODS: We carried out comprehensive clinical evaluation of four patients who were identified with a supernumerary...
Topics
- Adult
- Arachnodactyly
- Child
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- Chromosome Banding
- Chromosomes, Human, Pair 15
- Craniosynostoses
- Female
- Genetic Markers
- Humans
- In Situ Hybridization, Fluorescence