Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family

ConclusionThis study firstly reports that a translocation breakpoint disruptingTP63 contributes to the SHFM in a Chinese family, which expands our knowledge of genetic risk and counseling underlying SHFM. It provides a basis for genetic counseling and prenatal diagnosis (preimplantation genetic diagnosis) for this family.

Source: Molecular Genetics & Genomic Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Ying Peng, Shuting Yang, Hui Xi, Jiancheng Hu, Zhengjun Jia, Jialun Pang, Jing Liu, Wenxian Yu, Chengyuan Tang, Hua Wang Tags: CLINICAL REPORT Source Type: research