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本文报道1例染色体新生(17)(p13)缺失的胎儿。孕妇31岁,在孕30周时经超声图象检查,胎儿显示多发性异常和羊水过多,孕34周分娩,胎儿死亡。病理检查发现胎儿宫内生长迟缓,右心室双生口(conotrunca1 心脏缺损)和胸腺发育不良,诊断为部分 DiGeorge 异常。经羊水细胞染色体分析证实为 del(17p),断裂点在 p12和 p13.1连结处,整个 p13远端带型缺失,核型为46,ⅩⅩ,del(17)(p13.100),双亲染色体正常。据作者所知,以前尚未有 DiGeorge 异常与 del(17p)相关联,也无与 Miller-Dieker 综合征(MDS)相关的报道。
This article reports a fetus with a deletion of chromosome 17 (p13). 31-year-old pregnant woman, 30 weeks pregnant by ultrasound image examination, the fetus showed multiple abnormalities and amniotic fluid, 34 weeks of pregnancy childbirth, fetal death. Pathologic examination revealed a partial DiGeorge abnormality in the fetal intrauterine growth retardation, right ventricular twin (conotrunca1 heart defect) and thymus dysplasia. The amniotic fluid cell chromosome analysis confirmed del (17p), the breakpoint at the p12 and p13.1 junction, the entire p13 distal band deletion, karyotype 46, XX, del (17) (p13.100), the parental chromosome normal. To the authors’ knowledge, there have been no DiGeorge anomalies associated with del (17p) and no reports of Miller-Dieker syndrome (MDS).