Howard Chu, Daisy Parsons, James Metcalfe, Alexander Armstrong
{"title":"与 12q13.13 微缺失有关的先天性手部差异。","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":"{\"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}","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}
Congenital hand difference associated with 12q13.13 microdeletion.
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.