Conflict of interest: none.
Another patient with 12q13 microduplication†
Article first published online: 3 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2004–2008, August 2013
How to Cite
2013. Another patient with 12q13 microduplication. Am J Med Genet Part A. 161A:2004–2008., , , , , , , , .
- Issue published online: 24 JUL 2013
- Article first published online: 3 JUL 2013
- Manuscript Accepted: 1 APR 2013
- Manuscript Received: 22 JAN 2013
- 12q13 duplication;
- Wolf–Hirschhorn syndrome phenocopy;
- intellectual disability
Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition. While several reports describe distal 12q duplication, only one case report of homogeneous, non-mosaic interstitial 12q13 duplication has been documented to date. The authors of that observation proposed that the associated phenotype represented a phenocopy of Wolf–Hirschhorn syndrome [Dallapiccola et al., 2009]. Only a few other recorded patients with deletion 12q13 12q21 involved mosaicism. We describe a new patient with homogeneous 12q13 duplication in a 6-year-old girl who, in early infancy, presented with dysmorphic features suggesting Wolf–Hirschhorn syndrome. What is potentially significant about this patient is that her facial phenotype evolved with age, suggesting a different gestalt in older patients. © 2013 Wiley Periodicals, Inc.