Autism and Hypoplastic Corpus Callosum in a Case of Monocentric Marker Chromosome 15

Jovanović-Privrodski, Jadranka D.; Kavečan, Ivana I.; Obrenović, Milan R.; Buonadonna, Lucia A.; Bukvić, Nenad M.

doi:10.1016/j.pediatrneurol.2009.02.004

« Previous Next »Pediatric Neurology
Volume 41, Issue 1 , Pages 65-67, July 2009

Autism and Hypoplastic Corpus Callosum in a Case of Monocentric Marker Chromosome 15

Jadranka D. Jovanović-Privrodski, MD, PhD
- Institute for Children and Youth Health Care Vojvodina, Center for Medical Genetics, Medical Faculty, 21000 Novi Sad, Serbia
- Communications should be addressed to: Dr. Jovanović-Privrodski; Bulevar Cara Lazara 83; 21000 Novi Sad, Serbia.
Ivana I. Kavečan, MD, BSc
- Institute for Children and Youth Health Care Vojvodina, Center for Medical Genetics, Medical Faculty, 21000 Novi Sad, Serbia
Milan R. Obrenović, MD
- Institute for Children and Youth Health Care Vojvodina, Center for Medical Genetics, Medical Faculty, 21000 Novi Sad, Serbia
Lucia A. Buonadonna, BSc
- Hospital-Bari, Department of Genetics, Bari, Italy
Nenad M. Bukvić, PhD
- University Hospital Foggia, Department of Laboratory, Diagnostics, Section of Cytogenetics and Molecular Biology, Foggia, Italy

Received 22 October 2008; accepted 4 February 2009.

An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML−(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, and mental and developmental retardation are not rare in association with a dicentric, bisatellited supernumerary marker chromosome 15, the present case is novel for a monocentric, monosatellited supernumerary marker chromosome 15 and the additional feature of hypoplastic corpus callosum. The present case provides support for the hypotheses that additional copies of different segments of proximal 15q are related to autism and to malformations of corpus callosum.