胸廓脐膨出胎儿的阵列比较基因组杂交：病例报告

Q3 Medicine

Italian Journal of Gynaecology and Obstetrics Pub Date : 2024-02-01 DOI:10.36129/jog.2024.157

Valeria Ghisu, Marta Gargiulo, Stefania Sanna, A. Rapisarda, Clara Gerosa, Roberta Murru, Sabrina Rita Giglio, Stefano Angioni

{"title":"胸廓脐膨出胎儿的阵列比较基因组杂交：病例报告","authors":"Valeria Ghisu, Marta Gargiulo, Stefania Sanna, A. Rapisarda, Clara Gerosa, Roberta Murru, Sabrina Rita Giglio, Stefano Angioni","doi":"10.36129/jog.2024.157","DOIUrl":null,"url":null,"abstract":"Background . Ectopia cordis (EC) is a rare anomaly characterized by abnormal heart positioning. The exact etiology remains unknown, is likely to be associated with genetic and environmental factors. The introduction of an array-based comparative genomic hybridization (a-CGH) test has broadened our understanding of the genetic basis of many fetal anomalies, providing a more precise characterization of imbalances and allowing the comparison of the phenotype with other patients displaying imbalances in the same region. We report a rare case of ectopia cordis associated with the coexistence of a rare deletion in chromosome 19. Case presentation . A 28-year-old primigravida was referred to our hospital for abortion. Ultrasonography was performed to establish a gestational","PeriodicalId":35717,"journal":{"name":"Italian Journal of Gynaecology and Obstetrics","volume":"1168 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Array comparative genomic hybridisation in a fetus with thoracic ectopia cordis: a case report\",\"authors\":\"Valeria Ghisu, Marta Gargiulo, Stefania Sanna, A. Rapisarda, Clara Gerosa, Roberta Murru, Sabrina Rita Giglio, Stefano Angioni\",\"doi\":\"10.36129/jog.2024.157\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background . Ectopia cordis (EC) is a rare anomaly characterized by abnormal heart positioning. The exact etiology remains unknown, is likely to be associated with genetic and environmental factors. The introduction of an array-based comparative genomic hybridization (a-CGH) test has broadened our understanding of the genetic basis of many fetal anomalies, providing a more precise characterization of imbalances and allowing the comparison of the phenotype with other patients displaying imbalances in the same region. We report a rare case of ectopia cordis associated with the coexistence of a rare deletion in chromosome 19. Case presentation . A 28-year-old primigravida was referred to our hospital for abortion. Ultrasonography was performed to establish a gestational\",\"PeriodicalId\":35717,\"journal\":{\"name\":\"Italian Journal of Gynaecology and Obstetrics\",\"volume\":\"1168 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Italian Journal of Gynaecology and Obstetrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36129/jog.2024.157\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Italian Journal of Gynaecology and Obstetrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36129/jog.2024.157","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

摘要

背景 .脐外翻（Ectopia cordis，EC）是一种罕见的畸形，其特征是心脏位置异常。确切的病因尚不清楚，可能与遗传和环境因素有关。基于阵列的比较基因组杂交（a-CGH）检验的引入拓宽了我们对许多胎儿畸形遗传基础的认识，提供了更精确的不平衡特征，并可将表型与显示同一区域不平衡的其他患者进行比较。我们报告了一例罕见的脐带外翻病例，该病例同时伴有罕见的 19 号染色体缺失。病例介绍 .一名 28 岁的初产妇因流产转诊至我院。我们为她进行了超声波检查，以确定她的妊娠期。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Array comparative genomic hybridisation in a fetus with thoracic ectopia cordis: a case report

Background . Ectopia cordis (EC) is a rare anomaly characterized by abnormal heart positioning. The exact etiology remains unknown, is likely to be associated with genetic and environmental factors. The introduction of an array-based comparative genomic hybridization (a-CGH) test has broadened our understanding of the genetic basis of many fetal anomalies, providing a more precise characterization of imbalances and allowing the comparison of the phenotype with other patients displaying imbalances in the same region. We report a rare case of ectopia cordis associated with the coexistence of a rare deletion in chromosome 19. Case presentation . A 28-year-old primigravida was referred to our hospital for abortion. Ultrasonography was performed to establish a gestational

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Italian Journal of Gynaecology and Obstetrics Medicine-Obstetrics and Gynecology

CiteScore

1.60

自引率

0.00%

发文量

期刊介绍： Presentazione: E’ l’organo ufficiale della Società Italiana di Ginecologia e Ostetricia. Con cadenza trimestrale pubblica articoli originali su temi di anatomia, istologia, fisiologia, patologia, genetica e virologia dell’apparato genitale femminile. Propone, inoltre, casi clinici riguardanti valutazioni di tecniche chirurgiche e trattamenti terapeutici; editoriali e review; il punto di vista di eminenti autori su particolari tematiche sotto l’aspetto etico e clinico.