How to cite this article: Kulikowski LD, Bellucco FTS, Nogueira SI, Christofolini DM, Smith MAC, de Mello CB, Brunoni D, Melaragno MI. 2008. Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes. Am J Med Genet Part A 146A:2663–2667.
Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes†
Article first published online: 16 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 20, pages 2663–2667, 15 October 2008
How to Cite
Kulikowski, L. D., Bellucco, F. T.S., Nogueira, S. I., Christofolini, D. M., Smith, M. d. A.C., de Mello, C. B., Brunoni, D. and Melaragno, M. I. (2008), Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes. Am. J. Med. Genet., 146A: 2663–2667. doi: 10.1002/ajmg.a.32510
- Issue published online: 24 SEP 2008
- Article first published online: 16 SEP 2008
- Manuscript Accepted: 18 JUN 2008
- Manuscript Received: 15 APR 2008
- CAPES and FAPESP (Brazil)
- duplication 1q41;
- trisomy 1q;
- mental retardation;
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature. © 2008 Wiley-Liss, Inc.