对染色体 17q12 缺失综合征表型差异的单卵双胞胎进行产前诊断。

IF 1.2 4区医学 Q3 ACOUSTICS

Journal of Clinical Ultrasound Pub Date : 2024-11-01 Epub Date: 2024-09-02 DOI:10.1002/jcu.23814

Dan Ma, Tao Yuan, Zhihui Zhao, Lan Zeng, Jin Wang, Xiaocheng Nie, Huping Liang, Guanghuan Pi, Ai Chen, Gen Li, Biao Tang, Shuyao Zhu

{"title":"对染色体 17q12 缺失综合征表型差异的单卵双胞胎进行产前诊断。","authors":"Dan Ma, Tao Yuan, Zhihui Zhao, Lan Zeng, Jin Wang, Xiaocheng Nie, Huping Liang, Guanghuan Pi, Ai Chen, Gen Li, Biao Tang, Shuyao Zhu","doi":"10.1002/jcu.23814","DOIUrl":null,"url":null,"abstract":"We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome. This case represents the first documented instance of prenatally identified identical twins affected by 17q12 deletion syndrome.","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.\",\"authors\":\"Dan Ma, Tao Yuan, Zhihui Zhao, Lan Zeng, Jin Wang, Xiaocheng Nie, Huping Liang, Guanghuan Pi, Ai Chen, Gen Li, Biao Tang, Shuyao Zhu\",\"doi\":\"10.1002/jcu.23814\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome. This case represents the first documented instance of prenatally identified identical twins affected by 17q12 deletion syndrome.\",\"PeriodicalId\":15386,\"journal\":{\"name\":\"Journal of Clinical Ultrasound\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Ultrasound\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/jcu.23814\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/9/2 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"ACOUSTICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Ultrasound","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/jcu.23814","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/2 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"ACOUSTICS","Score":null,"Total":0}

引用次数: 0

摘要

我们介绍了一个病例研究，重点是染色体 17q12 缺失综合征单卵双胞胎的产前超声检查结果。胎儿 A 表现为双侧胎儿眼球突出和马蹄内翻足，而胎儿 B 则表现为高回声肾。尽管这对双胞胎具有相同的新生儿变异，但却表现出不同的临床表型，这表明该综合征的表型变异受非遗传因素的影响。该病例是首例有文献记载的产前确定的同卵双胞胎受 17q12 缺失综合征影响的病例。

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

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome. This case represents the first documented instance of prenatally identified identical twins affected by 17q12 deletion syndrome.

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

Journal of Clinical Ultrasound 医学-核医学

CiteScore

1.90

自引率

0.00%

发文量

248

审稿时长

6 months

期刊介绍： The Journal of Clinical Ultrasound (JCU) is an international journal dedicated to the worldwide dissemination of scientific information on diagnostic and therapeutic applications of medical sonography. The scope of the journal includes--but is not limited to--the following areas: sonography of the gastrointestinal tract, genitourinary tract, vascular system, nervous system, head and neck, chest, breast, musculoskeletal system, and other superficial structures; Doppler applications; obstetric and pediatric applications; and interventional sonography. Studies comparing sonography with other imaging modalities are encouraged, as are studies evaluating the economic impact of sonography. Also within the journal''s scope are innovations and improvements in instrumentation and examination techniques and the use of contrast agents. JCU publishes original research articles, case reports, pictorial essays, technical notes, and letters to the editor. The journal is also dedicated to being an educational resource for its readers, through the publication of review articles and various scientific contributions from members of the editorial board and other world-renowned experts in sonography.