Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication†
Article first published online: 25 MAY 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1713–1718, July 2012
How to Cite
Margari, L., Di Cosola, M. L., Buttiglione, M., Pansini, A., Buonadonna, A. L., Craig, F., Cariola, F., Petruzzelli, M. G. and Gentile, M. (2012), Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication. Am. J. Med. Genet., 158A: 1713–1718. doi: 10.1002/ajmg.a.35400
How to Cite this Article: Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M. 2012. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication. Am J Med Genet Part A. 158A:1713–1718.
- Issue published online: 18 JUN 2012
- Article first published online: 25 MAY 2012
- Manuscript Accepted: 12 MAR 2012
- Manuscript Received: 10 OCT 2011
- monosomy 8p;
- trisomy 12p;
- array CGH;
- MCA/MR syndrome
Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability (ID) and behavioral disturbances. This article reports the clinical features, and long term follow-up of a patient with neurodevelopmental, cognitive, and behavioral abnormalities associated with facial dysmorphism, CNS anomalies, and epilepsy. The karyotype was normal; array CGH testing revealed a de novo cryptic aberration with a terminal 8p23.2p23.3 deletion, and a concomitant 12p13.31p13.33 duplication, of 6.86 Mb, and 8.49 Mb, respectively. Our patient clinical features are compared to those of partial 8 monosomy and/or partial 12p trisomy cases reported in literature, in order to establish genotype–phenotype correlations. For some features, for example, electroencephalogram (EEG) abnormalities and epilepsy, both abnormalities seem to make a contribution, while most phenotypic traits have been assigned to 8p monosomy or to 12p trisomy, contributing to a tentative phenotype map for partial monosomy of the short arm of chromosome 8, and trisomy of the short arm of chromosome 12. © 2012 Wiley Periodicals, Inc.