A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

作者：Verhoeven Willem M A^*; Egger Jos I M; Feenstra Ilse; de Leeuw Nicole

来源：European Journal of Medical Genetics, 2012, 55(5): 358-361.

DOI：10.1016/j.ejmg.2011.10.005

• SNP array
• De novo microdeletion
• 8q12.3q13.2
• Intellectual disability
• Dysmorphic features
• Neuropsychological dysfunction
• Epilepsy
• ESES
• CSWS

A female patient, nine years of age, is reported with a history characterized by delay of psychomotor and speech development, mild to moderate intellectual disability and persistent sleep disturbances since the age of two. The patient showed facial dysmorphisms, a pectus excavatum and a sandal gap. Apart from lowered intelligence, neuropsychological functioning disclosed impaired attentional capacities and executive control as well as weak motor skills. Genome wide SNP array analysis revealed a 3.57 Mb de novo microdeletion in band q12.3 of chromosome 8. The long lasting sleep disorders turned out to originate from a rare juvenile epilepsy, continuous spike-waves during slow sleep (CSWS) syndrome, that includes the electrical status epilepticus in sleep (ESES) phenomenon. MRI-scanning of the brain showed no abnormalities. %26lt;br%26gt;To the authors knowledge, this is the first report of a de novo 8q12.3q13.2 microdeletion syndrome that presents with ESES/CSWS.

• 出版日期2012-5