单纯性染色体18p部分三体综合征患儿的产前遗传学诊断和文献回顾

发布时间：2018-03-07 15:47

本文选题：不良产史　切入点：产前诊断　出处：《中华生殖与避孕杂志》2017年07期 　论文类型：期刊论文

【摘要】：目的探讨单纯性染色体18P部分三体综合征患者的产前诊断特点。方法联合运用传统染色体核型分析和染色体微阵列(chromosome microarray analysis,CMA)基因芯片技术对家系成员行染色体核型分析和基因组拷贝数变异检测。结果胎儿羊水染色体核型结果为46,XY,der(18),父母双方染色体核型均未见异常;胎儿基因芯片检测结果为arr[hg19]18p11.31p11.21(3,521,718-15,099,116)×3,即胎儿基因组18号染色体短臂p11.31p11.21区域存在11.58 Mb的片段重复,父母双方基因芯片结果均为阴性,提示该胎儿的18号染色体结构重排为新发生的。结论在一个有不良生育史家系的胎儿中检出一个罕见新发的单纯性染色体18p部分三体变异,这是世界少见的单纯性染色体18p部分三体综合征的产前病例报道。联合运用传统染色体核型分析和C M A基因芯片技术在预防不良产史家系中胎儿出生缺陷的产前诊断中具有重要的临床应用价值。
[Abstract]:Objective to investigate the characteristics of prenatal diagnosis in patients with simple chromosome 18p partial trisomy syndrome. Methods chromosome karyotype analysis and chromosome microarray microarray analysis (CMA) gene chip technique were used to analyze the chromosome karyotype of family members. Results the chromosome karyotype of fetal amniotic fluid was 46-XYYD ~ (18), and the karyotype of both parents was not abnormal. The result of fetal gene chip detection was arr [hg19] 18p11.31p11.213FU 521N 718-150909) 脳 3, that is, there were 11.58Mb repeats in the short arm p11.31p11.21 region of fetal genome 18, and the results of both parents were negative. Conclusion A rare new chromosome 18p partial trisomy mutation was detected in a fetus with abnormal birth history. This is a rare antenatal case of simple chromosome 18p partial trisomy syndrome in the world. Combined use of traditional chromosome karyotype analysis and C M A gene chip technology to prevent fetal birth defects in history of poor birth. It has important clinical application value in pre-diagnosis.
【作者单位】：同济大学附属第一妇婴保健院;
【基金】：浦东新区卫生系统重点学科群建设资助(PWZxq2014-02)~~
【分类号】：R714.5

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