Conflict of interest: none.
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients
Article first published online: 23 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1779–1785, July 2013
How to Cite
2013. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. Am J Med Genet Part A 161A:1779–1785., , , , , , , , .
- Issue published online: 19 JUN 2013
- Article first published online: 23 MAY 2013
- Manuscript Accepted: 12 MAR 2013
- Manuscript Received: 2 SEP 2012
- Ministry of Education, Culture, Sports, Science and Technology (MEXT)
- Ministry of Health, Labor, and Welfare, Japan
- Japan Society for the Promotion of Science
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|ajmga35975-sm-0001-SupFig-S1.tif||2838K||Figure S1. Additional results of chromosomal microarray testing. (Top) Patient 1. Loss of genomic copy number in the subtelomeric region of 12q24.33 with a size of 1.4 Mb is shown. (Bottom) Patient 2. Loss of genomic copy number in the distal region of Yq11.22 is noted. Blue-translucent rectangles indicate aberrant regions. The results of these analyses are visualized using the Agilent Genomic Workbench ver 6.5 (Agilent Technologies).|
|ajmga35975-sm-0002-SupTab-S1.xls||33K||Table SI. List of the Genes Included in the Deletion Region of 12q24.33 in Patient 1.|
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