L. Li, X. Huang, M. Ye, J. Chen, Z. Zeng, H. Guo, Q. Liao, W. Hu, D. Tang, Y. Dai
{"title":"Prenatal findings of 2q13 Duplication and Deletion: Further Evidence for Lack of Phenotypic-Genotype Correlation","authors":"L. Li, X. Huang, M. Ye, J. Chen, Z. Zeng, H. Guo, Q. Liao, W. Hu, D. Tang, Y. Dai","doi":"10.22541/au.163308148.84107640/v1","DOIUrl":null,"url":null,"abstract":"2q13 CNV was associated with various diseases, with a lack of consensus.\nBy CMA analysis, we found that four fetuses had deletion in the proximal\nregion of 2q13, one had duplication, and one had duplication in the\ndistal region of 2q13; however, they had variable outcomes.","PeriodicalId":73617,"journal":{"name":"Journal of bioinformatics and systems biology : Open access","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of bioinformatics and systems biology : Open access","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.22541/au.163308148.84107640/v1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
2q13 CNV was associated with various diseases, with a lack of consensus.
By CMA analysis, we found that four fetuses had deletion in the proximal
region of 2q13, one had duplication, and one had duplication in the
distal region of 2q13; however, they had variable outcomes.