This study was supported in part by the DFG (LI 820/22-1) and DAAD (D07/00070). Drs. Snezana B. Niksic and Gordana R. Pilic performed the cytogenetic studies in the present case, Dr. Vesna I. Deretic provided genetic counseling to the parents, performed cytogenetic studies in the parents and collected the clinical data relative to this case report, Drs. Elizabeth Ewers, Martina Merkas, Monika Ziegler and Thomas Liehr performed the molecular cytogenetic analysis and interpretation. Dr. Thomas Liehr drafted the report and all authors contributed to the finalizing of the manuscript. Written consent was obtained from the parents for publication of this case report.