{"title":"Pallister-Killian syndrome: case report with pineal tumor.","authors":"L Mauceri, G Sorge, G Incorpora, L Pavone","doi":"10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j","DOIUrl":null,"url":null,"abstract":"<p><p>Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"75-8"},"PeriodicalIF":0.0000,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j","citationCount":"15","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/1096-8628(20001106)95:1<75::aid-ajmg15>3.0.co;2-j","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 15
Abstract
Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
