Dissemination of information: This case has been entered on Decipher database under the reference number SMH250275.
Version of Record online: 13 MAY 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 6, pages 1453–1457, June 2011
How to Cite
Banka, S., Fitzgibbon, G. J., Gaunt, L., Rankin, W. J. and Clayton-Smith, J. (2011), A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion. Am. J. Med. Genet., 155: 1453–1457. doi: 10.1002/ajmg.a.34034
How to Cite this Article: Banka S, Fitzgibbon GJ, Gaunt L, Rankin WJ, Clayton-Smith J. 2011. A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion. Am J Med Genet Part A 155:1453–1457.
- Issue online: 20 MAY 2011
- Version of Record online: 13 MAY 2011
- Manuscript Accepted: 20 MAR 2011
- Manuscript Received: 4 JAN 2011
- Manchester NIHR Biomedical Research Centre
Additional supporting information may be found in the online version of this article.
|AJMA_34034_sm_Suppl-Fig-1.tif||215K||Fig. 1: Affymetrix SNP6.0 copy number data (log2 ratio and smoothed signal) for patients II:2 and II:4 showing the paternally inherited 0.8Mb duplication of chromosome 16 (horizontal blue bar) within band q22.1 (region highlighted on the accompanying ideogram).|
|AJMA_34034_sm_Suppl-Fig-2.tif||168K||Fig. 2: Affymetrix SNP6.0 copy number data for patients II:2 and II:4 showing the maternally inherited 1.9Mb deletion of chromosome 15 (horizontal red bar) between bands q13.2 and q13.3.|
|AJMA_34034_sm_Suppl-Fig-3.tif||267K||Fig. 3: In situ hybridization testing of paternal chromosomes (Patient I:3) showing an amplified green signal (arrowed) for probe RP11–140H17 on the metaphase spread (left hand side) and interphase cell (right hand side) confirming the parental origin of the 16q22.1 tandem duplication.|
|AJMA_34034_sm_Suppl-Fig-4.tif||149K||Fig. 4: FISH testing of maternal metaphase chromosomes (Patient I:2) showing a red centromeic control signal for both chromosome 15 homologues and only a single green signal for probe RP11–164K24 confirming the maternal origin of the 15q13.2–q13.3 deletion.|
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