A patient with a de novo 8P23.3P23.1 deletion/ 12P13.33P13.31 duplication

A boy, third child in a family with unremarkable history, was conceived through Intracytoplasmatic Sperm Injection because of oligo-asteno-teratospermia. He was seen at 3 months of age because of hypotonia. On physical examination, his high weight was the most striking element together with full cheeks. His development was characterized by psychomotoric delay and important weight gain. Brain MRI showed delayed myelinisation. Using a 44 K Agilent oligo array, we discovered a 6.9 Mb 8p23.3p23.1 deletion and a 8.2 Mb 12p13.33p13.31 duplication. Both aberrations were de novo. To our knowledge, only Margari et al. reported a girl with similar de novo copy number imbalances (Margari et al., 2012). This girl has a 6.8 Mb 8p23.3p23.2 deletion and a 8.4 Mb 12p13.33p13.31 duplication. She has a delay in motor and intellectual development, presents seizures and has prominent cheeks. She developed behavioral problems by the age of 11 years. We made a comparison between the genotypes and the phenotypes observed in these two patients and compared the findings with reports presenting patients with only a 8p deletion or only a 12p duplication. This allowed us to observe the differences and similarities between the phenotype caused by the combination of both copy number imbalances and the phenotype caused by each copy number imbalance. Long term follow-up of this patient will provide more insight into clinical features which can only be observed later in development.