Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma

Abstract

We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic features, and hyperactivity with elements of autism spectrum disorder (ASD).

Keywords

• neuronal homeostasis
• neurodevelopmental genes
• overlapping phenotypes
• common fragile site fra1e
• epigenetics
• noncoding rnas
• transposons
• tc1/mariner family of transposable elements
• human brain transcriptome
• bones and dental anomalies