16对染色体三体嵌合伴部分逆位和左心位观察妊娠早期至新生儿期极罕见异常1例

Prenatal Cardiology Pub Date : 2013-03-01 DOI:10.12847/03136

Beata Radzymińska-Chruściel, Urszula Dajda, Sebastian Zalewski, A. Piatkowska, Julia Wieczor, Dariusz Gołąbek, D. Porada, A. Rudziński

{"title":"16对染色体三体嵌合伴部分逆位和左心位观察妊娠早期至新生儿期极罕见异常1例","authors":"Beata Radzymińska-Chruściel, Urszula Dajda, Sebastian Zalewski, A. Piatkowska, Julia Wieczor, Dariusz Gołąbek, D. Porada, A. Rudziński","doi":"10.12847/03136","DOIUrl":null,"url":null,"abstract":"Abstract This is case report of extremely rare mosaic trisomy of 16th pair of chromosomes from the high risk pregnancy (maternal age 35 years old, positive screeining in 1st trimester). The fetus presented with intrauterine growth retardation, congenital heart defect, dysmorphic features and skeletal anomalies. The case has been observed until hospitalization in pediatric cardiology department. Other similar cases have been analysed.","PeriodicalId":415760,"journal":{"name":"Prenatal Cardiology","volume":"264 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2013-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mosaicism of Trisomy of 16 Pairs of Chromosomes with Partial Situs Inversus and Levocardia Observation of Extremely Rare Anomaly from 1st Trimester to Neonatal Period- Case Report\",\"authors\":\"Beata Radzymińska-Chruściel, Urszula Dajda, Sebastian Zalewski, A. Piatkowska, Julia Wieczor, Dariusz Gołąbek, D. Porada, A. Rudziński\",\"doi\":\"10.12847/03136\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract This is case report of extremely rare mosaic trisomy of 16th pair of chromosomes from the high risk pregnancy (maternal age 35 years old, positive screeining in 1st trimester). The fetus presented with intrauterine growth retardation, congenital heart defect, dysmorphic features and skeletal anomalies. The case has been observed until hospitalization in pediatric cardiology department. Other similar cases have been analysed.\",\"PeriodicalId\":415760,\"journal\":{\"name\":\"Prenatal Cardiology\",\"volume\":\"264 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2013-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Prenatal Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12847/03136\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12847/03136","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

摘要

摘要本文报道一例极为罕见的16对染色体镶嵌三体，来自高危妊娠(母亲年龄35岁，妊娠早期筛查阳性)。胎儿表现为宫内发育迟缓、先天性心脏缺陷、畸形特征和骨骼异常。该病例一直观察到儿科心内科住院。对其他类似的案例也进行了分析。

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

Mosaicism of Trisomy of 16 Pairs of Chromosomes with Partial Situs Inversus and Levocardia Observation of Extremely Rare Anomaly from 1st Trimester to Neonatal Period- Case Report

Abstract This is case report of extremely rare mosaic trisomy of 16th pair of chromosomes from the high risk pregnancy (maternal age 35 years old, positive screeining in 1st trimester). The fetus presented with intrauterine growth retardation, congenital heart defect, dysmorphic features and skeletal anomalies. The case has been observed until hospitalization in pediatric cardiology department. Other similar cases have been analysed.

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

Prenatal Cardiology

自引率

0.00%

发文量