Conflict of interest: none.
Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen-like phenotype, severe intellectual disability, and autism
Version of Record online: 4 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2078–2083, August 2013
How to Cite
2013. Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a Saethre–Chotzen-like phenotype, severe intellectual disability, and autism. Am J Med Genet Part A. 161A:2078–2083., , , , , , , , .
- Issue online: 24 JUL 2013
- Version of Record online: 4 JUL 2013
- Manuscript Accepted: 15 APR 2013
- Manuscript Received: 19 JAN 2013
- Ministry of Education, Culture, Sports, Science and Technology (MEXT)
- Ministry of Health, Labor, and Welfare, Japan
- Japan Society for the Promotion of Science (JSPS)
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|ajmga36027-sm-0001-SuppFig-S1.tif||3108K||FIG. S1. The results of FISH. A: Single green signal of RP11-137H7 (4q13.2) due to deletion of 4q13.2 (arrow) and two control orange signals of RP11-28I12 (4q35.7) are confirmed. B: Single green signal of RP11-125F6 (7p21.1) due to deletion of 7p21.1 (arrow) and two control orange signals of RP11-58F7 (7q36.3) are confirmed.|
|ajmga36027-sm-0002-SuppFig-S2.tif||2242K||FIG. S2. The results of microsatellite marker analysis. Electrophoregrams of the amplicons of D4S392 (4q13.3) (left) and D7S507 (7p21.1) (right) are shown. The patient only shows the peaks common with those of the mother, indicating the deletions of the paternally derived alleles.|
|ajmga36027-sm-0003-SuppFig-S3.tif||8716K||FIG. S3. The genome map of the deletion regions identified in this study. Chromosomal regions of 4q13.2 (above) and 7p21.1 (bottom) are shown by the UCSC genome browser.|
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