Vera Grossmann and Doris Müller contributed equally to this work.
Version of Record online: 19 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2522–2526, November 2009
How to Cite
Grossmann, V., Müller, D., Müller, W., Fresser, F., Erdel, M., Janecke, A. R., Zschocke, J., Utermann, G. and Kotzot, D. (2009), “Essentially” pure trisomy 3q27 qter: Further delineation of the partial trisomy 3q phenotype. Am. J. Med. Genet., 149A: 2522–2526. doi: 10.1002/ajmg.a.33058
How to cite this article: Grossmann V, Müller D, Müller W, Fresser F, Erdel M, Janecke AR, Zschocke J, Utermann G, Kotzot D. 2009. “Essentially” pure trisomy 3q27 qter: Further delineation of the partial trisomy 3q phenotype. Am J Med Genet Part A 149A:2522–2526.
- Issue online: 28 OCT 2009
- Version of Record online: 19 OCT 2009
- Manuscript Accepted: 13 JUL 2009
- Manuscript Received: 6 MAR 2009
- Österreichische Nationalbank. Grant Number: 12530
- Tiroler Wissenschaftsfonds. Grant Number: 369
- Brachmann–de Lange syndrome;
Partial duplication 3q is a well defined clinical entity characterized by growth retardation, cryptorchism, microcephaly, and characteristic dysmorphisms. Most patients present with large duplications or are associated with a second chromosomal imbalance, which makes the definition of the phenotype difficult. Here, we report on a 4-year and 8-month-old girl with pre- and postnatal measurements in the high normal range, developmental delay, minor dysmorphic features, and a de novo unbalanced 3/4 translocation with trisomy 3q27 qter and monosomy of the subtelomeric region of 4p. Conventional karyotyping, FISH with probes from the Wolf–Hirschhorn syndrome critical region and chromosome 4p locus-specific probes, microsatellite marker-based haplotyping, and SNP microarray copy number analysis revealed a terminal 4p deletion of less than 500 kb with a breakpoint distal to the Wolf–Hirschhorn syndrome critical region, a chromosome 3q duplication of around 15.3 Mb, with origin of the rearrangement in paternal meiosis. Thus, our case clearly characterizes the phenotype of pure partial duplication 3q more exactly, and moreover, indicates that small chromosome rearrangements might lead to growth in the upper normal range or even cause overgrowth. © 2009 Wiley-Liss, Inc.