Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
Publication/Presentation Date
3-1-1982
Abstract
High-resolution chromosome analysis and multiple banding techniques were performed on blood samples from 40 patients with Prader-Willi syndrome (PWS) as a follow-up to our recent report in which we found interstitial deletions of 15q in four of five patients with this syndrome. Of the 40 new patients, 19 had interstitial del(15q), one had an apparently balanced 15;15 translocation, and one was mos46,XX/47,XX+idic(15) (pter leads to q11::q11 leads to pter). These data confirm our previous report and demonstrate that half of all patients with the clinical diagnosis of PWS have chromosome abnormalities involving chromosome 15 detectable by high-resolution methods. Although the majority of these involve a specific deletion of bands 15q11-q12, other alterations of chromosome 15 may be present.
Volume
34
Issue
2
First Page
278
Last Page
285
ISSN
0002-9297
Published In/Presented At
Ledbetter, D. H., Mascarello, J. T., Riccardi, V. M., Harper, V. D., Airhart, S. D., & Strobel, R. J. (1982). Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. American journal of human genetics, 34(2), 278–285.
Disciplines
Medicine and Health Sciences
PubMedID
7072717
Department(s)
Department of Medicine
Document Type
Article