Neurological and neuropathological findings in ring chromosome 4
Despite the fact that mental retardation, microcephaly, seizures, and hyperactivity are common in patients with ring chromosome 4, little has been written about the underlying neuropathology. We describe a 6-year-old girl whose neuropathological findings included low brain weight, abnormal gyral dev...
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| Veröffentlicht in: | Journal of medical genetics 1980-12, Vol.17 (6), p.487-490 |
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| container_end_page | 490 |
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| container_title | Journal of medical genetics |
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| creator | Young, R S Zalneraitis, E L |
| description | Despite the fact that mental retardation, microcephaly, seizures, and hyperactivity are common in patients with ring chromosome 4, little has been written about the underlying neuropathology. We describe a 6-year-old girl whose neuropathological findings included low brain weight, abnormal gyral development, and heterotopic neurons. The significance of these findings in regard to other retardation syndromes is discussed. |
| doi_str_mv | 10.1136/jmg.17.6.487 |
| format | Article |
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We describe a 6-year-old girl whose neuropathological findings included low brain weight, abnormal gyral development, and heterotopic neurons. The significance of these findings in regard to other retardation syndromes is discussed.</description><subject>Brain - pathology</subject><subject>Child</subject><subject>Chromosome 4</subject><subject>Chromosome Aberrations - genetics</subject><subject>Chromosome Disorders</subject><subject>Chromosomes, Human, 4-5 - ultrastructure</subject><subject>Female</subject><subject>Humans</subject><subject>Hyperactivity</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - genetics</subject><subject>Nervous System Diseases - genetics</subject><subject>Nervous System Diseases - pathology</subject><subject>Research Article</subject><subject>Seizures</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1980</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1v0zAYxi0EGmVw44oUCQk4LMWvv3OZYN34EGNcBlfLSew2JbGLnSD47-eqVQcIwcnW-_z82I8fhB4DngNQ8XI9LOcg52LOlLyDZsCEKgVh7C6aYUxISXhF76MHKa0xBipBHKEjSTBnlM_Qqys7xdCHZdeYvjC-Lfx2sDHj6jB1nW87v0xF54uYN0WzimEIKQy2YA_RPWf6ZB_t12P0-c3F9eJdefnp7fvF68uy5lSNpVU1JpRD29IWJJOVcYTgWlAspHK85sxWVe0oASVFZU3DTQOtM9Ip54xT9Bid7nw3Uz3YtrF-jKbXm9gNJv7UwXT6d8V3K70M3zUolT-AZINne4MYvk02jXroUmP73ngbpqQlZxxDJTP49A9wHaboczhNAUhFoOLkXxRIibnAim2pkx3VxJBStO7wYMB6257O7eUDWujcXsaf_BryAO_rynq507s02h8H2cSvWkgqub76stAfP-Cza3Z-plnmn-_4elj_7-YXt-Rtkr-hN43bvfs</recordid><startdate>19801201</startdate><enddate>19801201</enddate><creator>Young, R S</creator><creator>Zalneraitis, E L</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19801201</creationdate><title>Neurological and neuropathological findings in ring chromosome 4</title><author>Young, R S ; Zalneraitis, E L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b538t-e8b02351dd3d17479af220b630678f5b54e99bf3218769eac5ac1dfa7f8ffaf83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1980</creationdate><topic>Brain - pathology</topic><topic>Child</topic><topic>Chromosome 4</topic><topic>Chromosome Aberrations - genetics</topic><topic>Chromosome Disorders</topic><topic>Chromosomes, Human, 4-5 - ultrastructure</topic><topic>Female</topic><topic>Humans</topic><topic>Hyperactivity</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - genetics</topic><topic>Nervous System Diseases - genetics</topic><topic>Nervous System Diseases - pathology</topic><topic>Research Article</topic><topic>Seizures</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Young, R S</creatorcontrib><creatorcontrib>Zalneraitis, E L</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Young, R S</au><au>Zalneraitis, E L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neurological and neuropathological findings in ring chromosome 4</atitle><jtitle>Journal of medical genetics</jtitle><stitle>J Med Genet</stitle><addtitle>J Med Genet</addtitle><date>1980-12-01</date><risdate>1980</risdate><volume>17</volume><issue>6</issue><spage>487</spage><epage>490</epage><pages>487-490</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Despite the fact that mental retardation, microcephaly, seizures, and hyperactivity are common in patients with ring chromosome 4, little has been written about the underlying neuropathology. We describe a 6-year-old girl whose neuropathological findings included low brain weight, abnormal gyral development, and heterotopic neurons. The significance of these findings in regard to other retardation syndromes is discussed.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>7205435</pmid><doi>10.1136/jmg.17.6.487</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 1980-12, Vol.17 (6), p.487-490 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Brain - pathology Child Chromosome 4 Chromosome Aberrations - genetics Chromosome Disorders Chromosomes, Human, 4-5 - ultrastructure Female Humans Hyperactivity Intellectual disabilities Intellectual Disability - genetics Nervous System Diseases - genetics Nervous System Diseases - pathology Research Article Seizures |
| title | Neurological and neuropathological findings in ring chromosome 4 |
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