Howard Chu, Daisy Parsons, James Metcalfe, Alexander Armstrong
{"title":"Congenital hand difference associated with 12q13.13 microdeletion.","authors":"Howard Chu, Daisy Parsons, James Metcalfe, Alexander Armstrong","doi":"10.1177/17531934241253479","DOIUrl":null,"url":null,"abstract":"<p><p>We report the case of a 15-year-old boy with a de novo chromosomal deletion in the 12q13.13 region, presenting with congenital hand difference. This case emphasizes the clinical significance of recognizing such genetic anomalies and their implications.</p>","PeriodicalId":94237,"journal":{"name":"The Journal of hand surgery, European volume","volume":" ","pages":"124-126"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Journal of hand surgery, European volume","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/17531934241253479","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/23 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We report the case of a 15-year-old boy with a de novo chromosomal deletion in the 12q13.13 region, presenting with congenital hand difference. This case emphasizes the clinical significance of recognizing such genetic anomalies and their implications.