Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report
The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q1...
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| Veröffentlicht in: | Arquivos de neuro-psiquiatria 1997-06, Vol.55 (2), p.329 |
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| container_issue | 2 |
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| container_title | Arquivos de neuro-psiquiatria |
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| creator | Fridman, C Kok, F Diament, A Koiffmann, C P |
| description | The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome. |
| doi_str_mv | 10.1590/S0004-282X1997000200025 |
| format | Article |
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These results are in agreement with the clinical diagnosis of Angelman syndrome.</description><identifier>ISSN: 0004-282X</identifier><identifier>DOI: 10.1590/S0004-282X1997000200025</identifier><identifier>PMID: 9629397</identifier><language>por</language><publisher>Brazil</publisher><subject>Angelman Syndrome - complications ; Angelman Syndrome - diagnosis ; Angelman Syndrome - genetics ; Child ; Chromosomes, Human, Pair 15 ; Epilepsy - etiology ; Female ; Humans ; Intellectual Disability - etiology</subject><ispartof>Arquivos de neuro-psiquiatria, 1997-06, Vol.55 (2), p.329</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,782,786,27933,27934</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9629397$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fridman, C</creatorcontrib><creatorcontrib>Kok, F</creatorcontrib><creatorcontrib>Diament, A</creatorcontrib><creatorcontrib>Koiffmann, C P</creatorcontrib><title>Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. 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These results are in agreement with the clinical diagnosis of Angelman syndrome.</description><subject>Angelman Syndrome - complications</subject><subject>Angelman Syndrome - diagnosis</subject><subject>Angelman Syndrome - genetics</subject><subject>Child</subject><subject>Chromosomes, Human, Pair 15</subject><subject>Epilepsy - etiology</subject><subject>Female</subject><subject>Humans</subject><subject>Intellectual Disability - etiology</subject><issn>0004-282X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9T8tKxDAUzUIZx9FPEPMDHZNm8nI3DL5gwIUK7obb5maotGlM2kX_3oqDi8PhPDhwCLnlbM2lZXdvjLFNUZryk1urZ1H-Qp6R5X9wQS5z_prdzdxYkIVVpRVWLwlswxHbDgLNU3Cp7_CeAvUJv0cMQzvRMbgGjqHP6GgNY0bae9rNGbQ04QDJwdD0gUJwFGPTYszTmu5gLiaMfRquyLmHNuP1iVfk4_Hhffdc7F-fXnbbfRE500MhaiXBKwvWKC4slwa95JXThtWCO2MlilJ7pQVzlfZMKMG0NdIYWynDtFiRm7_dOFYdukNMTQdpOpyuih-he1W9</recordid><startdate>199706</startdate><enddate>199706</enddate><creator>Fridman, C</creator><creator>Kok, F</creator><creator>Diament, A</creator><creator>Koiffmann, C P</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope></search><sort><creationdate>199706</creationdate><title>Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report</title><author>Fridman, C ; Kok, F ; Diament, A ; Koiffmann, C P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p107t-3c65af69a986139158ef51bd780c31d895e327f6730db7f036307985889b68073</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>por</language><creationdate>1997</creationdate><topic>Angelman Syndrome - complications</topic><topic>Angelman Syndrome - diagnosis</topic><topic>Angelman Syndrome - genetics</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 15</topic><topic>Epilepsy - etiology</topic><topic>Female</topic><topic>Humans</topic><topic>Intellectual Disability - etiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fridman, C</creatorcontrib><creatorcontrib>Kok, F</creatorcontrib><creatorcontrib>Diament, A</creatorcontrib><creatorcontrib>Koiffmann, C P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><jtitle>Arquivos de neuro-psiquiatria</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fridman, C</au><au>Kok, F</au><au>Diament, A</au><au>Koiffmann, C P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. 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| identifier | ISSN: 0004-282X |
| ispartof | Arquivos de neuro-psiquiatria, 1997-06, Vol.55 (2), p.329 |
| issn | 0004-282X |
| language | por |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Angelman Syndrome - complications Angelman Syndrome - diagnosis Angelman Syndrome - genetics Child Chromosomes, Human, Pair 15 Epilepsy - etiology Female Humans Intellectual Disability - etiology |
| title | Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report |
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