How to Cite this Article: Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK. 2012. Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array. Am J Med Genet Part A 161A:166–171.
Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array†
Article first published online: 7 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 166–171, January 2013
How to Cite
Izumi, K., Santani, A. B., Deardorff, M. A., Feret, H. A., Tischler, T., Thiel, B. D., Mulchandani, S., Stolle, C. A., Spinner, N. B., Zackai, E. H. and Conlin, L. K. (2013), Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array. Am. J. Med. Genet., 161: 166–171. doi: 10.1002/ajmg.a.35625
- Issue published online: 22 DEC 2012
- Article first published online: 7 DEC 2012
- Manuscript Accepted: 25 JUL 2012
- Manuscript Received: 12 APR 2012
Additional supporting information may be found in the online version of this article.
|ajmg_35625_sm_SuppFig1.tiff||1520K||Fig. 1: The results of methylation specific PCR (MS-PCR) analysis. Lane 1: Patient 1, Lane 2: Patient 2, Lane 3: PWS control, Lane 4: Angelman syndrome (AS) control, Lane 5: normal individual and Lane 6: blank. The MS-PCR of Patient 1 and Patient 2 demonstrated a strong band corresponding to the maternal allele as well as a faint band corresponding to the paternal allele on lane 1 and lane 2.|
|ajmg_35625_sm_SuppFig2.tiff||375K||Fig. 2: G-banded chromosome analysis of Patient 2. A trisomy 15 cell was identified in 40 cells examined. Arrows indicate the three chromosome 15s.|
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