How to cite this article: Bursztejn A-C, Bronner M, Peudenier S, Grégoire M-J, Jonveaux P, Nemos C. 2009. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. Am J Med Genet Part A 149A:2493–2500.
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy†
Article first published online: 19 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2493–2500, November 2009
How to Cite
Bursztejn, A.-C., Bronner, M., Peudenier, S., Grégoire, M.-J., Jonveaux, P. and Nemos, C. (2009), Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. Am. J. Med. Genet., 149A: 2493–2500. doi: 10.1002/ajmg.a.33051
- Issue published online: 28 OCT 2009
- Article first published online: 19 OCT 2009
- Manuscript Accepted: 8 JUL 2009
- Manuscript Received: 25 FEB 2009
- ANR GIS-INSERM Institut des Maladies Rares
- Communauté urbaine du grand Nancy (CUGN)
- Aicardi syndrome;
- 1p36 monosomy;
Monosomy 1p36 is the most frequent terminal deletion known in Humans. Typical craniofacial features, developmental delay/mental retardation, seizures and sensorineural defects characterize 1p36 deletion syndrome. Aicardi syndrome (AIS) is a rare genetic disorder characterized by chorioretinal lacunae, corpus callosum agenesis and infantile spasms responsible for mental retardation. By screening DNA from diagnosed AIS patients with oligonucleotide array-based comparative genomic hybridization (aCGH), we report a 1p36 monosomy in this study. There were no other deletions or duplications. Regarding clinical criteria, the patient did not have the typical facial appearance commonly described for 1p36 monosomy patients. We showed that this 1p36 monosomy corresponded to combined interstitial and terminal de novo deletions of the chromosome 1 leading to an 11.73 Mb deletion confirmed with qPCR. By microsatellite markers and FISH analyses, we have concluded that this deletion occurred on maternal chromosome 1 during oogenesis. We did find some clinical features shared by the 1p36 monosomy and AIS: infantile spasms, corpus callosum dysgenesis, ophthalmological abnormalities, and skeletal malformations. To date, no relationship between these two phenotypes has been established. We conclude that the monosomy 1p36 should be considered in the differential diagnosis of AIS. © 2009 Wiley-Liss, Inc.