J. Bernaciak, B. Wiśniowiecka-Kowalnik, Jennifer Castañeda, A. Kutkowska-Kaźmierczak, B. Nowakowska
{"title":"A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - Case report.","authors":"J. Bernaciak, B. Wiśniowiecka-Kowalnik, Jennifer Castañeda, A. Kutkowska-Kaźmierczak, B. Nowakowska","doi":"10.34763/devperiodmed.20172102.9194","DOIUrl":null,"url":null,"abstract":"Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medycyna wieku rozwojowego","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34763/devperiodmed.20172102.9194","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 4
Abstract
Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient.