How to cite this article: Elbracht M, Roos A, Schönherr N, Busse S, Damen R, Zerres K, Rudnik-Schöneborn S, Schüler HM. 2009. Pure Distal Trisomy 2q: A rare chromosomal abnormality with recognizable phenotype. Am J Med Genet Part A 149A:2547–2550.
Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype†
Article first published online: 28 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2547–2550, November 2009
How to Cite
Elbracht, M., Roos, A., Schönherr, N., Busse, S., Damen, R., Zerres, K., Rudnik-Schöneborn, S. and Schüler, H. M. (2009), Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype. Am. J. Med. Genet., 149A: 2547–2550. doi: 10.1002/ajmg.a.33086
- Issue published online: 28 OCT 2009
- Article first published online: 28 OCT 2009
- Manuscript Accepted: 16 JUL 2009
- Manuscript Received: 16 APR 2009
- craniofacial dysmorphisms;
- duplication 2q syndrome;
- partial trisomy 2q;
- trisomy 2q35-q37
We present clinical and molecular cytogenetic results of two unrelated patients with isolated distal trisomy of 2q33-qter and 2q35-q37.3 and a remarkable similar facial appearance. Common craniofacial features included a high hairline, broad nasal bridge, prominent nasal tip, thin upper lip vermillion, and large ears. Contrary to patients with duplications proximal to 2q33, the children with pure trisomy distal to 2q35 have normal or increased body measurements and show no major malformations. Moderate psychomotor delay was a constant finding. © 2009 Wiley-Liss, Inc.