Prenatally detected six duplications at Xp22.33-p11.22: a case report

作者全名："Zhang, Xue; Li, Jian; Zhang, Lan; Liu, Hongli; Yi, Hong; Liang, Mingxing; Luo, Jianyu; Li, Junnan; Dong, Yanling"

作者地址："[Zhang, Xue; Li, Jian; Zhang, Lan; Liu, Hongli; Yi, Hong; Liang, Mingxing; Luo, Jianyu; Li, Junnan; Dong, Yanling] Chongqing Med Univ, Affiliated Hosp 1, Dept Obstet, 1 Youyi Rd, Chongqing 400016, Peoples R China; [Zhang, Xue; Li, Jian; Zhang, Lan; Liu, Hongli; Yi, Hong; Liang, Mingxing; Luo, Jianyu; Li, Junnan; Dong, Yanling] Chongqing Med Univ, Affiliated Hosp 1, Chongqing Fetal Med Ctr, Chongqing 400016, Peoples R China"

通信作者："Dong, YL (通讯作者)，Chongqing Med Univ, Affiliated Hosp 1, Dept Obstet, 1 Youyi Rd, Chongqing 400016, Peoples R China.; Dong, YL (通讯作者)，Chongqing Med Univ, Affiliated Hosp 1, Chongqing Fetal Med Ctr, Chongqing 400016, Peoples R China."

来源：BMC PREGNANCY AND CHILDBIRTH

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000978324000001

JCR分区：Q1

影响因子：2.8

年份：2023

卷号：23

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：Congenital heart defects; Copy number variations; Chromosome microarray analysis; Multiple ligation-dependent probe amplification; Single nucleotide polymorphisms

摘要："BackgroundThe discrepancy between the results of cytogenetics and the results of chromosome microarray analysis (CMA) has often led to confusion over genetic counselling for prenatal diagnosis.Case presentationThe prenatal ultrasound results of a congenital heart defect (CHD) foetus displayed an apartial endocardial pad defect and permanently dilated coronary sinus and left superior vena cava at 21 weeks of gestation. Cytogenetic analysis, CMA, fluorescent in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) with foetal cord blood samples were used to detect the genetic aetiology. Routine G-binding cytogenetic analysis showed normal karyotypes in both the foetus' and parents' blood samples. CMA results demonstrated that there were 53.973-Mb recurrent CNVs at Xp22.33-p11.22, as confirmed by MLPA assay.ConclusionsHerein, we described the CNV of six duplications at Xp22.33-p11.22 and the 53.973 Mb duplication CNV that was not found in foetal cord blood samples by conventional cytogenetic methods, and it was confirmed by CMA and MLPA. Our novel findings will provide helpful information for prenatal diagnosis and genetic counselling for foetal CHDs."

基金机构：First Affiliated Hospital of Chongqing Medical University Nursing Education Research Funds [HLJJ2019-15]

基金资助正文：The First Affiliated Hospital of Chongqing Medical University Nursing Education Research Funds Number: HLJJ2019-15