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作者报告一例13环状染色体病例,并把此病人的身体特征与以前报告的病例做了比较。因为13环状染色体综合征呈现不定的表型,根据临床对其进行诊断是困难的。因为13环状染色体综合征病人有丝分裂有不同程度的易变性,于是在细胞群中具有不同的基因型,因而产生不同的表型表现。病例报告:患儿生于1974年8月17日,妊娠38周分娩,患儿父48岁,母41岁,父母健康,患儿是最后一胎,其父母及祖父母均
The authors report a case of 13 cytogenetics and compared the patient’s physical characteristics with previously reported cases. Because 13-ring chromosome syndrome presents an indefinite phenotype, it is difficult to diagnose it clinically. Because of mitosis to varying degrees, variability in 13 mitotic metaplasia patients leads to different genotypes in the cell population, resulting in different phenotypic manifestations. Case report: The child was born on August 17, 1974 and gave birth at 38 weeks of gestation. The child was 48 years old, with a mother of 41 years and a healthy parent. The child was the last one, and both parents and grandparents