18q-mosaicism associated with Rett syndrome phenotype
Rett syndrome consists of a characteristic progressive encephalopthy in females. The cause of this syndrome is unknown. We present a patient with 18q‐mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate...
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| Veröffentlicht in: | American journal of medical genetics 1993-04, Vol.46 (2), p.142-144 |
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| container_title | American journal of medical genetics |
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| creator | Gordon, Kevin Siu, Victoria Mok Sergovich, Fred Jung, Jack |
| description | Rett syndrome consists of a characteristic progressive encephalopthy in females. The cause of this syndrome is unknown. We present a patient with 18q‐mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet cinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome. © 1993 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320460208 |
| format | Article |
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The cause of this syndrome is unknown. We present a patient with 18q‐mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet cinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome. © 1993 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320460208</identifier><identifier>PMID: 8484399</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>18q ; Adult ; Biological and medical sciences ; chromosome 18 ; Chromosome Banding ; Chromosome Deletion ; chromosomes ; Chromosomes, Human, Pair 18 ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Humans ; man ; Medical sciences ; Mosaicism ; Neurology ; Phenotype ; phenotypes ; Rett syndrome ; Rett Syndrome - genetics ; Rett Syndrome - pathology ; X Chromosome</subject><ispartof>American journal of medical genetics, 1993-04, Vol.46 (2), p.142-144</ispartof><rights>Copyright © 1993 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4718-27006e955057d8c00346cd0dcd95d9ef3d380c73689d66311b0c87f2431907c53</citedby><cites>FETCH-LOGICAL-c4718-27006e955057d8c00346cd0dcd95d9ef3d380c73689d66311b0c87f2431907c53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4736164$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8484399$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gordon, Kevin</creatorcontrib><creatorcontrib>Siu, Victoria Mok</creatorcontrib><creatorcontrib>Sergovich, Fred</creatorcontrib><creatorcontrib>Jung, Jack</creatorcontrib><title>18q-mosaicism associated with Rett syndrome phenotype</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Rett syndrome consists of a characteristic progressive encephalopthy in females. The cause of this syndrome is unknown. We present a patient with 18q‐mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet cinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome. © 1993 Wiley‐Liss, Inc.</description><subject>18q</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>chromosome 18</subject><subject>Chromosome Banding</subject><subject>Chromosome Deletion</subject><subject>chromosomes</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Humans</subject><subject>man</subject><subject>Medical sciences</subject><subject>Mosaicism</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>phenotypes</subject><subject>Rett syndrome</subject><subject>Rett Syndrome - genetics</subject><subject>Rett Syndrome - pathology</subject><subject>X Chromosome</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkLtPwzAQhy0EglKYmZAyILbQ89sWEypQQOX9Gi1jOxBImhKngv73pGpVxMR0ku_73Z0_hHYwHGAA0rPv5esBpgSYAAJqBXUwaJEqQdQq6gBmKpVE6w20GeM7AG4fyDpaV0wxqnUHcaw-07KKNnd5LBMbY-Vy2wSffOXNW3IXmiaJ05GvqzIk47cwqprpOGyhtcwWMWwvahc9np489M_S4fXgvH80TB2TWKVEAoigOQcuvXIAlAnnwTuvudcho54qcJIKpb0QFOMXcEpmhFGsQTpOu2h_PndcV5-TEBtT5tGForCjUE2ikVxiihn9F8SCC03IDOzNQVdXMdYhM-M6L209NRjMzKiZGTW_RtvE7mL05KUMfskvFLb9vUXfRmeLrLajVuUSY-33sGAtdjjHvvIiTP_bao4uLgd_jkjn6Tw24XuZtvWHEZJKbp6vBkY83Q7vb45PzTH9AeXLnKM</recordid><startdate>19930415</startdate><enddate>19930415</enddate><creator>Gordon, Kevin</creator><creator>Siu, Victoria Mok</creator><creator>Sergovich, Fred</creator><creator>Jung, Jack</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19930415</creationdate><title>18q-mosaicism associated with Rett syndrome phenotype</title><author>Gordon, Kevin ; Siu, Victoria Mok ; Sergovich, Fred ; Jung, Jack</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4718-27006e955057d8c00346cd0dcd95d9ef3d380c73689d66311b0c87f2431907c53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>18q</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>chromosome 18</topic><topic>Chromosome Banding</topic><topic>Chromosome Deletion</topic><topic>chromosomes</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Humans</topic><topic>man</topic><topic>Medical sciences</topic><topic>Mosaicism</topic><topic>Neurology</topic><topic>Phenotype</topic><topic>phenotypes</topic><topic>Rett syndrome</topic><topic>Rett Syndrome - genetics</topic><topic>Rett Syndrome - pathology</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gordon, Kevin</creatorcontrib><creatorcontrib>Siu, Victoria Mok</creatorcontrib><creatorcontrib>Sergovich, Fred</creatorcontrib><creatorcontrib>Jung, Jack</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gordon, Kevin</au><au>Siu, Victoria Mok</au><au>Sergovich, Fred</au><au>Jung, Jack</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>18q-mosaicism associated with Rett syndrome phenotype</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1993-04-15</date><risdate>1993</risdate><volume>46</volume><issue>2</issue><spage>142</spage><epage>144</epage><pages>142-144</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Rett syndrome consists of a characteristic progressive encephalopthy in females. The cause of this syndrome is unknown. We present a patient with 18q‐mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet cinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome. © 1993 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8484399</pmid><doi>10.1002/ajmg.1320460208</doi><tpages>3</tpages></addata></record> |
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| identifier | ISSN: 0148-7299 |
| ispartof | American journal of medical genetics, 1993-04, Vol.46 (2), p.142-144 |
| issn | 0148-7299 1096-8628 |
| language | eng |
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| subjects | 18q Adult Biological and medical sciences chromosome 18 Chromosome Banding Chromosome Deletion chromosomes Chromosomes, Human, Pair 18 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Humans man Medical sciences Mosaicism Neurology Phenotype phenotypes Rett syndrome Rett Syndrome - genetics Rett Syndrome - pathology X Chromosome |
| title | 18q-mosaicism associated with Rett syndrome phenotype |
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