A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders − Case report

Bernaciak, Joanna; Wiśniowiecka-Kowalnik, Barbara; Castañeda, Jennifer; Kutkowska-Kaźmierczak, Anna; Nowakowska, Beata

doi:10.34763/devperiodmed.20172102.9194

Abstract

Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient.

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A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders − Case report

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