Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Publication/Presentation Date
9-1-2012
Abstract
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 marker chromosome. The marker chromosome was characterized by G-banding, fluorescence in situ hybridization, single nucleotide polymorphism oligonucleotide microarray analysis, and immunofluorescence with antibodies to centromere protein C.
RESULTS: The marker chromosomes were categorized as being neocentric with all showing tetrasomy for regions distal to 15q25 and the common region of overlap being 15q26→qter.
CONCLUSION: Tetrasomy of 15q26 likely results in a distinct syndrome as the patients with tetrasomy 15q26 share a strikingly more consistent phenotype than do the patients with Shprintzen-Goldberg syndrome, who show remarkable clinical variation.
Volume
14
Issue
9
First Page
811
Last Page
818
ISSN
1530-0366
Published In/Presented At
Levy, B., Tegay, D., Papenhausen, P., Tepperberg, J., Nahum, O., Tsuchida, T., Pletcher, B. A., Ala-Kokko, L., Baker, S., Frederick, B., Hirschhorn, K., Warburton, P., & Shanske, A. (2012). Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?. Genetics in medicine : official journal of the American College of Medical Genetics, 14(9), 811–818. https://doi.org/10.1038/gim.2012.54
Disciplines
Medicine and Health Sciences
PubMedID
22653535
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article