Article
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.
Congenital anomalies - 1 Jul 2023
Yamada Mamiko, Suzuki Hisato, Miya Fuyuki, Kosugiyama Kiyotaka, Ujiie Takeshi, Tonoki Hidefumi, Kosaki Kenjiro
Abstract excerpt
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...
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