C Stoll, Y Alembik, M Pfindel, A Chauvin, A Hanauer
{"title":"【MASA综合征(智力迟钝、失语、痉挛性截瘫和拇指内收)，是异质性的吗?】","authors":"C Stoll, Y Alembik, M Pfindel, A Chauvin, A Hanauer","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>MASA syndrome is the acronym for Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. Linkage studies have shown linkage to markers in the Xq28 band.</p><p><strong>Case reports: </strong>Case no. 1: Mickaël was examined at the age of 3 yr 4 mo. He was mentally retarded (IQ = 40), aphasic, and had spastic gait, moderate facial dysmorphy and adducted thumbs. His parents were normal, except that his mother had similar facial dysmorphy. His brain CT scan was normal. Case no. 2: Philippe was the elder brother of Mickaël. When examined at the age of 5 years, he had the same features as his brother. His IQ was 40. His brain-CT scan was also normal. DNA analysis with markers for the Xq28 area showed that the brothers had received different X chromosomes from their mother.</p><p><strong>Conclusion: </strong>DNA studies suggest that the MASA syndrome is heterogeneous.</p>","PeriodicalId":8169,"journal":{"name":"Archives francaises de pediatrie","volume":"50 8","pages":"665-9"},"PeriodicalIF":0.0000,"publicationDate":"1993-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].\",\"authors\":\"C Stoll, Y Alembik, M Pfindel, A Chauvin, A Hanauer\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>MASA syndrome is the acronym for Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. Linkage studies have shown linkage to markers in the Xq28 band.</p><p><strong>Case reports: </strong>Case no. 1: Mickaël was examined at the age of 3 yr 4 mo. He was mentally retarded (IQ = 40), aphasic, and had spastic gait, moderate facial dysmorphy and adducted thumbs. His parents were normal, except that his mother had similar facial dysmorphy. His brain CT scan was normal. Case no. 2: Philippe was the elder brother of Mickaël. When examined at the age of 5 years, he had the same features as his brother. His IQ was 40. His brain-CT scan was also normal. DNA analysis with markers for the Xq28 area showed that the brothers had received different X chromosomes from their mother.</p><p><strong>Conclusion: </strong>DNA studies suggest that the MASA syndrome is heterogeneous.</p>\",\"PeriodicalId\":8169,\"journal\":{\"name\":\"Archives francaises de pediatrie\",\"volume\":\"50 8\",\"pages\":\"665-9\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1993-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives francaises de pediatrie\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives francaises de pediatrie","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].
Background: MASA syndrome is the acronym for Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. Linkage studies have shown linkage to markers in the Xq28 band.
Case reports: Case no. 1: Mickaël was examined at the age of 3 yr 4 mo. He was mentally retarded (IQ = 40), aphasic, and had spastic gait, moderate facial dysmorphy and adducted thumbs. His parents were normal, except that his mother had similar facial dysmorphy. His brain CT scan was normal. Case no. 2: Philippe was the elder brother of Mickaël. When examined at the age of 5 years, he had the same features as his brother. His IQ was 40. His brain-CT scan was also normal. DNA analysis with markers for the Xq28 area showed that the brothers had received different X chromosomes from their mother.
Conclusion: DNA studies suggest that the MASA syndrome is heterogeneous.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
