{"title":"姑息-基利安综合征伴松果体肿瘤1例。","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":"{\"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}","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}
Pallister-Killian syndrome: case report with pineal tumor.
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.
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