How to cite this article: Filges I, Röthlisberger B, Noppen C, Boesch N, Wenzel F, Necker J, Binkert F, Huber AR, Heinimann K, Miny P. 2009. Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family. Am J Med Genet Part A 149A:237–241.
Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family†
Article first published online: 22 JAN 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 2, pages 237–241, February 2009
How to Cite
Filges, I., Röthlisberger, B., Noppen, C., Boesch, N., Wenzel, F., Necker, J., Binkert, F., Huber, A. R., Heinimann, K. and Miny, P. (2009), Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family. Am. J. Med. Genet., 149A: 237–241. doi: 10.1002/ajmg.a.32622
- Issue published online: 22 JAN 2009
- Article first published online: 22 JAN 2009
- Manuscript Accepted: 21 AUG 2008
- Manuscript Received: 2 JUN 2008
- deletion 13q21.1;
- benign phenotype;
- euchromatic variant;
- benign copy number variation
We report on the clinical and cytogenetic findings as well as the array-based characterization of an interstitial familial 13q21 deletion initially recognized by standard karyotyping. Although 13q deletions are known to imply a wide variability of clinical consequences, the deletion carriers of the familial deletion in three generations did not reveal a relevant phenotype. The breakpoints and the deletion size in all three carrier individuals were determined by molecular karyotyping confirming a large 14.5 Mb deletion encompassing the 13q21.1–13q21.33 region identical in all three carriers. Gene paucity and the lack of dosage-sensitive genes in the delineated region might explain the apparently innocuous nature of this chromosomal anomaly. The example of this family presents evidence for describing the chromosomal region 13q21.1–13q21.33 as a large euchromatic variant or benign copy number variation without phenotypic consequences. Our data underline the importance of a phenogenetic approach combining clinical and laboratory evidence in the interpretation of segmental chromosomal anomalies especially in genetic counseling related to prenatal diagnosis. © 2009 Wiley-Liss, Inc.