Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2018
[Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Wu Dong, Wang Tao, Hou Qiaofang, Li Tao, Wang Xin, Zhang Chaoyang, Yang Yanli, Liu Hongli, Liao Shixiu
Аннотация
OBJECTIVE: To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism.
METHODS: The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH).
RESULTS: The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus.
CONCLUSION: The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus.
METHODS: The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH).
RESULTS: The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus.
CONCLUSION: The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus.