How to Cite this Article: van Kogelenberg M, Lerone M, De Toni T, Divizia MT, de Brouwer APM, Veltman JA, van Bokhoven H, Robertson SP. 2011. A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. Am J Med Genet Part A 155: 3144–3147.
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia†
Article first published online: 3 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 12, pages 3144–3147, December 2011
How to Cite
van Kogelenberg, M., Lerone, M., De Toni, T., Divizia, M. T., de Brouwer, A. P.M., Veltman, J. A., van Bokhoven, H. and Robertson, S. P. (2011), A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. Am. J. Med. Genet., 155: 3144–3147. doi: 10.1002/ajmg.a.34311
- Issue published online: 21 NOV 2011
- Article first published online: 3 NOV 2011
- Manuscript Accepted: 6 AUG 2011
- Manuscript Received: 9 DEC 2010
- Fontaine–Farriaux syndrome;
- periventricular nodular heterotopia;
- X chromosomal interstitial deletion
We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine–Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300 kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, ZFX, PDK3, and PCYT1B in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype. © 2011 Wiley Periodicals, Inc.