Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.

When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the haploinsufficiency of which leads to Kleefstra syndrome 2 characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphism.

Parental stress associated with caring for children with Asperger's syndrome or autism.

Background: The levels of parental stress among parents of children with Asperger's syndrome in comparison with parents of children with autism are unknown in the Japanese population.

Methods: The stress levels in Japanese parents caring for children with Asperger's syndrome were compared with the stress levels found in Japanese parents caring for children with autism using the Parenting Stress Index/Short Form.

Results: In a sample of 193 families, both groups had a significant increase in parental stress levels.