{"title":"A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies.","authors":"Xiaoli Zeng, Fang Liu, Yunfan Xu, Fangfang Liu","doi":"10.5603/GP.a2022.0045","DOIUrl":null,"url":null,"abstract":"<p><p>Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent [1]. Unlike numerical or structural chromosomal aberrations, UPD has no effects on chromosome number or structure, thereby escaping cytogenetic detection [1, 2]. However, UPD detection could be performed by the microsatellite analysis or SNP-based chromosomal microarray analysis (CMA) method. UPD may cause diseases in humans by disrupting normal allelic expression of genes undergoing genomic imprinting, homozygosity in case of autosomal recessive traits, or mosaic aneuploidy [2]. Here we present the first case of parental UPD for chromosome 7 with a normal phenotype.</p>","PeriodicalId":12727,"journal":{"name":"Ginekologia polska","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2023-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ginekologia polska","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5603/GP.a2022.0045","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent [1]. Unlike numerical or structural chromosomal aberrations, UPD has no effects on chromosome number or structure, thereby escaping cytogenetic detection [1, 2]. However, UPD detection could be performed by the microsatellite analysis or SNP-based chromosomal microarray analysis (CMA) method. UPD may cause diseases in humans by disrupting normal allelic expression of genes undergoing genomic imprinting, homozygosity in case of autosomal recessive traits, or mosaic aneuploidy [2]. Here we present the first case of parental UPD for chromosome 7 with a normal phenotype.
期刊介绍:
Ginekologia Polska’ is a monthly medical journal published in Polish and English language.
‘Ginekologia Polska’ will accept submissions relating to any aspect of gynaecology, obstetrics and areas directly related. ‘Ginekologia Polska’ publishes original contributions, comparative works, case studies, letters to the editor and many other categories of articles.