{"title":"22q13染色体重排导致整体发育迟缓和自闭症谱系障碍","authors":"M. Bonaglia, R. Giorda, R. Ciccone, O. Zuffardi","doi":"10.1159/000287603","DOIUrl":null,"url":null,"abstract":"The constitutional deletion of 22q13 is an example of a new microdeletion syndrome, known as the 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome, or Phelan-McDermid syndrome (OMIM #606232","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"18 1","pages":"137-150"},"PeriodicalIF":0.0000,"publicationDate":"2010-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000287603","citationCount":"2","resultStr":"{\"title\":\"Chromosome 22q13 Rearrangements Causing Global Developmental Delay and Autistic Spectrum Disorder\",\"authors\":\"M. Bonaglia, R. Giorda, R. Ciccone, O. Zuffardi\",\"doi\":\"10.1159/000287603\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The constitutional deletion of 22q13 is an example of a new microdeletion syndrome, known as the 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome, or Phelan-McDermid syndrome (OMIM #606232\",\"PeriodicalId\":76182,\"journal\":{\"name\":\"Monographs in human genetics\",\"volume\":\"18 1\",\"pages\":\"137-150\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-02-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1159/000287603\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Monographs in human genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000287603\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Monographs in human genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000287603","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Chromosome 22q13 Rearrangements Causing Global Developmental Delay and Autistic Spectrum Disorder
The constitutional deletion of 22q13 is an example of a new microdeletion syndrome, known as the 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome, or Phelan-McDermid syndrome (OMIM #606232
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