Conflict of interest: None.
Article first published online: 25 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1709–1712, July 2012
How to Cite
Tzschach, A., Grasshoff, U., Schäferhoff, K., Bonin, M., Dufke, A., Wolff, M., Haas-Lude, K., Bevot, A. and Riess, O. (2012), Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate. Am. J. Med. Genet., 158A: 1709–1712. doi: 10.1002/ajmg.a.35398
How to Cite this Article: Tzschach A, Grasshoff U, Schäferhoff K, Bonin M, Dufke A, Wolff M, Haas-Lude K, Bevot A, Riess O. 2012. Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus and cleft lip/palate. Am J Med Genet Part A. 158A:1709–1712.
- Issue published online: 18 JUN 2012
- Article first published online: 25 MAY 2012
- Manuscript Accepted: 14 MAR 2012
- Manuscript Received: 9 DEC 2011
- intellectual disability;
- SNP array;
Interstitial deletions of chromosome bands 9q34.11–q34.13 are rare. We report on a 16-year-old female patient with severe intellectual disability, congenital hydrocephalus, cleft lip and palate, talipes equinovarus, epilepsy, kyphoscoliosis, convergent strabismus, severe short stature, dystrophy, and facial dysmorphic signs. Array analysis revealed a 3.7 Mb interstitial deletion in 9q34.11–q34.13. The deletion harbors more than 60 genes, including SPTAN1, DYT1/TOR1A, ABL1, ASS1, LAMC3, POMT1, DOLK, and GLE1, mutations in which have previously been associated with monogenic disorders. This is the first patient with a deletion of this size and position in 9q34.11–q34.13. Reports of additional patients with aberrations in this region will be needed to establish karyotype–phenotype correlations and to gain information on the contribution of individual genes for the clinical manifestations. © 2012 Wiley Periodicals, Inc.