How to Cite this Article: Frühmesser A, Haberlandt E, Judmaier W, Schinzel A, Utermann B, Erdel M, Fauth C, Utermann G, Zschocke J, Kotzot D. 2012. Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. Am J Med Genet Part A. 158A:2239–2244.
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype†
Article first published online: 20 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 9, pages 2239–2244, September 2012
How to Cite
Frühmesser, A., Haberlandt, E., Judmaier, W., Schinzel, A., Utermann, B., Erdel, M., Fauth, C., Utermann, G., Zschocke, J. and Kotzot, D. (2012), Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. Am. J. Med. Genet., 158A: 2239–2244. doi: 10.1002/ajmg.a.35450
- Issue published online: 24 AUG 2012
- Article first published online: 20 JUL 2012
- Manuscript Accepted: 8 APR 2012
- Manuscript Received: 19 SEP 2011
- Österreichische Nationalbank. Grant Numbers: 12530, 13004
- chromosomal rearrangements;
- partial monosomy/deletion 7q;
- partial trisomy/duplication 17p;
Exact breakpoint determination by DNA-array has dramatically improved the analysis of genotype–phenotype correlations in chromosome aberrations. It allows a more exact definition of the most relevant genes and particularly their isolated or combined impact on the phenotype in an unbalanced state. Here, we report on a 21-year-old female with severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, various minor facial dysmorphisms, and a telomeric deletion of about 4.4 Mb in 7q36.2->qter combined with a telomeric duplication of about 8 Mb in 17pter->p13.1. Fine mapping was achieved with the Illumina® Infinium HumanOmni1-Quad v1.0 BeadChip. Most of the major clinical features correspond to the well-known effects of haploinsufficiency of the MNX1 and SHH genes. In addition, review of the literature suggests an association of the 17p duplication with specific facial dysmorphic features and skeletal anomalies, but also an aggravating effect of the duplication-deletion for severe growth retardation as well as sacral and corpus callosum hypoplasia by one or more genes located on the proximal half of the segmental 17p duplication could be elaborated by comparison with other patients from the literature carrying either the deletion or the duplication found in our patient. © 2012 Wiley Periodicals, Inc.