Folia Medica 63(1): 138-141, doi: 10.3897/folmed.63.e52763
16p11.2 Duplication Syndrome - a Case Report
expand article infoMariya Levkova§, Milena Stoyanova§, Rada Staneva|, Mari Hachmeriyan§, Lyudmila Angelova
‡ Medical University of Varna, Varna, Bulgaria§ St Marina University Hospital, Varna, Bulgaria| Mdical University of Sofia, Sofia, Bulgaria¶ Nadezhda Women’s Health Hospital, Sofia, Bulgaria
Open Access

16p11.2 duplication syndrome is a rare disorder, often associated with intellectual disability, attention deficit, hyperactivity disorder, and a predisposition to epilepsy and schizophrenia. There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism could be present. We report a case of 16p11.2 duplication syndrome which has the typical clinical presentation – slight facial dysmorphism, impaired intellectual development, and autistic behavior. Whole-exome sequencing was performed, but no pathogenic or likely pathogenic mutations were identified. Array comparative genomic hybridization analysis established the diagnosis of 16p11.2 duplication syndrome, which illustrates the importance of this method when diagnosing children with unexplained intellectual disability. 

16p11.2 duplication, array CGH, autistic behavior, intellectual disability