联合运用多种遗传学技术检测额外小标记染色体的探讨及遗传咨询

Discussion on the combined use of multiple genetic techniques to detect additional small marker chromosomes and genetic counseling

目的 探讨运用传统细胞遗传学技术和分子遗传学技术检测额外标记小染色体(sSMC)及其临床意义。方法 对淄博市妇幼保健院产前诊断中心8199例孕妇羊水进行染色体G显带分析,将发现的额外小标记染色体进一步开展染色体微阵列分析(CMA),并对胎儿的父母外周血染色体进行检查。结果 在分析的8199例羊水中,发现5例额外小标记染色体,检出率为0.061‰,基本与文献数据一致,其中1例由父母遗传所得,剩余4例均为新发突变。结论 联合G显带分析技术和CMA技术检测胎儿的额外小标记染色体,明确其结构和来源,为遗传咨询提供有力证据。

Objective To investigate the clinical significance of detecting small supermumerary marker chromsome(sSMC) by traditional cytogenetics and molecular genetics. Methods Chromosomal G-banding analysis was performed on 8199 cases of amniotic fluid in prenatal diagnosis center of Zibo Maternal and Child Health Care Hospital, chromosomal microarray analysis(CMA) was carried out on the additional chromosome markers found in 8199 cases of amniotic fluid, and the peripheral blood chromosome of fetal parents was examined. Results In 8199 cases of amniotic fluid, 5 cases of additional small marker chromosome were found, the detection rate was 0.061‰, which was basically consistent with the literature data.Among them, 1 case was inherited by parents, and the remaining 4 cases were all new mutations. Conclusion The combination of G-banding analysis and CMA technique can be used to detect the extra small marker chromosomes of fetuses, to clarify their structure and origin, and to provide strong evidence for genetic counseling.