Qinghua Wu, Saisai Yang, Can Wang, Huirong Shi, Xiangdong Kong, Shumin Ren, Zhihui Jiao, Ning Liu, Panlai Shi
{"title":"[Clinical phenotype and genetic analysis of three pedigrees with 17q12 microdeletion syndrome].","authors":"Qinghua Wu, Saisai Yang, Can Wang, Huirong Shi, Xiangdong Kong, Shumin Ren, Zhihui Jiao, Ning Liu, Panlai Shi","doi":"10.3760/cma.j.issn.1003-9406.2020.04.008","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To explore the genetic etiology of three pedigrees with a gestational history of fetal renal anomalies.</p><p><strong>Methods: </strong>Peripheral venous blood or skin samples were derived from the probands of the three pedigrees. Copy number variation sequencing (CNV-seq) was applied to detect alterations of genome CNVs.</p><p><strong>Results: </strong>The patient from pedigree 1 and the fetuses from pedigrees 2 and 3 all carried a heterozygous 17q12 deletion, with the size ranging from 1.4 Mb to 1.48 Mb encompassing the HNF1B gene.</p><p><strong>Conclusion: </strong>The diagnosis of 17q12 microdeletion may be difficult during fetal period for its variable phenotypes. Alterations of chromosomal copy numbers need to be excluded in such patients.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"37 4","pages":"397-400"},"PeriodicalIF":0.0000,"publicationDate":"2020-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华医学遗传学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.issn.1003-9406.2020.04.008","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 1
Abstract
Objective: To explore the genetic etiology of three pedigrees with a gestational history of fetal renal anomalies.
Methods: Peripheral venous blood or skin samples were derived from the probands of the three pedigrees. Copy number variation sequencing (CNV-seq) was applied to detect alterations of genome CNVs.
Results: The patient from pedigree 1 and the fetuses from pedigrees 2 and 3 all carried a heterozygous 17q12 deletion, with the size ranging from 1.4 Mb to 1.48 Mb encompassing the HNF1B gene.
Conclusion: The diagnosis of 17q12 microdeletion may be difficult during fetal period for its variable phenotypes. Alterations of chromosomal copy numbers need to be excluded in such patients.
期刊介绍：
Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry.
Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
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