Conflict of interest: none.
A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter
Article first published online: 4 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 1904–1909, August 2013
How to Cite
2013. A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter. Am J Med Genet Part A. 161A:1904–1909., , , , , , , .
- Issue published online: 24 JUL 2013
- Article first published online: 4 JUL 2013
- Manuscript Accepted: 15 APR 2013
- Manuscript Received: 7 FEB 2013
Additional supporting information may be found in the online version of this article at the publisher's web-site.
FIG. S1. Electropherogram for four heterozygous single nucleotide polymorphisms (SNPs) in tetrasomic region of the patient and her parents. Each heterozygous peak is of a similar height.
FIG. S2. Schematic representation of the “one-step” mechanism for de novo middle inverted triplication of biparental origin, together with paternal isodisomy. Arrowheads indicate the orientations of tetrasomic regions and dotted lines indicate breakpoint of the U-type exchange. The acentric chromosome (*) would be lost at the next cell division.
FIG. S3. Schematic representation of the “two-step” mechanism for de novo middle inverted triplication of biparental origin, together with paternal isodisomy. This model requires three chromosome breakages and two end-repairs. As mosaic cells with an absence of the 5q terminal region were not detected in the patient, they might be eliminated because of disadvantageous cell survival.
TABLE SI. Autosomal Recessive Diseases and Causative Genes at 5q34–qter
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