NIPT-plus提示3pter-p25缺失综合征和Pallister-Killian综合征高风险胎儿1例的遗传学分析
Genetic analysis of one case with high risk for 3pter-p25 deletion syndrome and Pallister-Killian syndrome in NIPT-plus
张乐 1王丽霞 1李慧君 1郭晓利 1薛淑媛1
作者信息
- 1. 乌鲁木齐市妇幼保健院产前诊断中心,新疆乌鲁木齐 830001;新疆围产期疾病临床医学研究中心,新疆乌鲁木齐 830001
- 折叠
摘要
目的 探讨1例由扩展性无创产前检测(NIPT-plus)提示3pter-p25缺失综合征和Pallister-Killian综合征(PKS)高风险胎儿的遗传学病因.方法 选取2023年6月27日于乌鲁木齐市妇幼保健院NIPT-plus检测提示3pter-p25缺失综合征和PKS高风险的1例胎儿为研究对象.采集孕妇相关临床资料,对胎儿羊水样本进行羊水染色体G显带核型分析与染色体微阵列分析(CMA),对其父母进行外周血染色体G显带核型分析,孕妇经遗传咨询后引产并对引产胎儿组织进行拷贝数变异测序(CNV-seq).结果 孕妇年龄为36岁,G3P1,因胎儿超声提示"胎儿双侧侧脑室对称、宽12 mm,未见明显胎儿透明隔腔,胎儿单脐动脉"就诊.CMA检测结果提示arr[GRCh37]3p26.3p26.1(61892_7439472)x1,12p13.33p12.2(173787_20064689)x3,缺失和重复片段大小分别为7.2Mb和19.89Mb,羊水的染色体核型分析结果为46,Xn,der(3)t(3;12)(p26;p12).arr;胎儿母亲的外周血染色体核型为46,XX,t(3;12)(p26;p12),胎儿父亲的外周血染色体核型正常.引产胎儿组织 CNV-seq 结果为 seq[hg19]del(3)(p26.3p26.1)chr3:g.60000_7420000del,dup(12)(p13.33p12.2)chr12:g.60000_20020000dup,缺失和重复片段大小为7.36 Mb和19.96 Mb,与CMA检测结果相符.结论 该胎儿同时存在3p26.3p26.1微缺失及12p13.33p12.2微重复变异,根据其母亲染色体核型结果,推测胎儿的染色体变异源自母亲的不平衡配子.应用G显带核型分析与CMA检测技术可诊断胎儿染色体结构异常的类型及来源,从而明确胎儿的遗传学病因.
Abstract
Objective Exploring the genetic etiology of a high-risk fetus with 3pter-p25 deletion syndrome and Pal-lister-Killian syndrome suggested by extended noninvasive prenatal testing(NIPT-plus).Methods In a case of a fetus with high risk of 3pter-p25 deletion syndrome and Pallister-Killian syndrome detected by NIPT-PLUS in Urumqi Maternal and Child Health Hospital on June 27,2023,we collected clinical information from the pregnant woman and performed G-banding chromosome karyotyping and chromosome microarray analysis(CMA)of fetal amniotic fluid,and fetal parents underwent peripheral blood G-banding chromosome karyotyping.Copy number variant sequencing(CNV-Seq)was performed on aborted tissue after the pregnant woman decided to induce labor.Results The pregnant woman was 36 years old,G3P1,fetal ultra-sonography revealed symmetrical bilateral lateral ventricles that were 12 mm wide;there was no obvious septum pellucidum;and the fetus had a single umbilical artery.The result of CMA was arr[GRCh37]3p26.3p26.1(61892-7439472)x1,12p13.33p 12.2(173787-20064689)x3.The sizes of the deletion and duplication fragments were 7.20 Mb and 19.89 Mb,respectively.Karyotyping of the amniotic fluid identified the presence of a derivative chromosome 3 with the rearrangement t(3;12)(p26;p12).The peripheral blood karyotype of the pregnant woman was 46,XX,t(3;12)(p26;p12),while that of the father was normal.The CNV-seq results of induced foetal tissue were seq[hg19]del(3)(p26.3p26.1)chr3:g.60000_7420000del,dup(12)(p13.33p12.2)chr12:g.60000_20020000dup.The deleted and duplicated fragments were 7.36 Mb and 19.96 Mb respectively.which was consistent with the result of the CMA.Conclusion The fetus carried both a 3p26.3p26.1 microdeletion and a 12p 13.33p 12.2 microduplication variant,based on the results of its mother's chromosomal karyotype,it was hypothesized that the chromosomal variant originated from the mother's unbalanced gametes.The application of G-banding karyotyping and CMA can determine the type and origin of fetal chromosomal structural abnormalities.
关键词
扩展性无创产前检测/产前诊断/3pter-p25缺失综合征/Pallister-Killian综合征Key words
extended noninvasive prenatal testing/prenatal diagnosis/3pter-p25 deletion syndrome/Pallister-Killian syn-drome引用本文复制引用
基金项目
乌鲁木齐市卫生健康委科技计划项目(202214)
科技创新团队(天山创新团队)项目(2022TSYCTD0016)
出版年
2024
NETL
NSTL
万方数据