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产后对18p四体有关的综合征诊断已明确,但产前诊断报道较少,尤其是嵌合体类型。本文报道一例胎儿尸检发现为18p四体镶嵌性畸形病例,同时对细胞遗传学、分子细胞遗传学及形态学进行分析。 1例38岁孕妇,孕15周行羊膜穿刺术,发现额外结构异常染色体(ESAC),细胞遗传学和荧光原位杂交(FISH)证实为:18p四体。建议终止妊娠。从两个独立的羊膜细胞培养中获取GTG带标记的中期,分析32个细胞,有50％显示出额外中间着丝点染色体。 妊娠终止后,对胎儿淋巴细胞和成纤维细胞进行染色体分析,25个血细胞未发现异常中期;培养103个成纤维细胞,其中4个异常。从羊膜细胞培养标本,使用一个着丝点
Postpartum diagnosis of 18p four syndromes has been clear, but less prenatal diagnosis reported, especially the type of chimera. This article reports a case of fetus autopsy found 18p four cases of mosaic deformity cases, at the same time on cytogenetics, molecular cytogenetics and morphology analysis. A 38-year-old pregnant woman underwent amniocentesis 15 weeks pregnant and found extra structural abnormalities (ESAC). Cytogenetics and fluorescence in situ hybridization (FISH) confirmed 18p four-body. Recommended termination of pregnancy. GTG labeled metaphase was obtained from two independent amniotic cell cultures, 32 cells analyzed, and 50% showed extra inter centimetric chromosomes. Chromosome analysis of fetal lymphocytes and fibroblasts after termination of pregnancy showed no abnormal metaphase in 25 blood cells; 103 fibroblasts were cultured, of which 4 were abnormal. Culture specimens from amniotic cells using a centromere