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- W4353020718 abstract "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. Nanopore long-read sequencing was shown to be useful in elucidating the exact genetic etiology of patients with nonspecific clinical findings." @default.
- W4353020718 created "2023-03-23" @default.
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- W4353020718 date "2023-03-28" @default.
- W4353020718 modified "2023-10-02" @default.
- W4353020718 title "Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of <i>KMT2C</i> disruption" @default.
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- W4353020718 doi "https://doi.org/10.1111/cga.12514" @default.
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