文献类型：期刊文献

英文题名：Combined Application of Multiple Techniques in Prenatal Diagnosis of a Fetus with Turner Syndrome

作者：Chen, Weiping[1];Zhang, Tao[1]

机构：[1]Shaoxing Univ, Shaoxing Matern & Child Hlth Care Hosp, Matern & Child Hlth Care Affiliated Hosp, Shaoxing 312000, Zhejiang, Peoples R China

年份：2024

卷号：70

期号：7

起止页码：1380

外文期刊名：CLINICAL LABORATORY

收录：SCI-EXPANDED(收录号：WOS:001283035200019)、、Scopus(收录号：2-s2.0-85197810996)、WOS

基金：This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

语种：英文

外文关键词：chromosome; karyotype; CMA; FISH

外文摘要：Background: The clinical features of Turner syndrome (TS) involve multiple organ system dysplasia, among which growth retardation and gonadal dysplasia are the most important clinical phenotypes. Methods: G banding karyotype analysis, chromosome microarray (CMA), and fluorescence in situ hybridization (FISH) were used for prenatal diagnosis of fetal chromosomes. Results: The result of fetal chromosome karyotype analysis was 46,XX. CMA showed arr[GRCh38]Xp22.33 p22.13(251888_18176046)x1,Xq27.1q28(140998347_156003433)x3. FISH indicated that the short arm end fragment of X chromosome was monomer and the long arm end fragment was trisomy. Conclusions: The fetal chromosome karyotype was normal, but CMA indicated that there was deletion and duplication of X chromosome. FISH verified the CMA results, locating the deletion and duplication fragments. CMA and FISH make up for the shortcomings of chromosome karyotype analysis technique. It is suggested that multiple detection methods should be applied in genetic prenatal diagnosis.