Complete trisomy 22
In a 2 6/12-years-old girl a complete trisomy 22 was verified with the G-banding (CTG-technique). She presented with Pierre-Robin-Sequence, cardiac and renal malformations, craniofacial dysmorphia and psychomotoric retardation as it often occurs in trisomy 22. Additionally, we observed tonic-clonic...
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| Veröffentlicht in: | Monatsschrift Kinderheilkunde 1993-03, Vol.141 (3), p.211-213 |
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| container_title | Monatsschrift Kinderheilkunde |
| container_volume | 141 |
| creator | Wollina, K Seidel, J Kirchner, M Beensen, V Kelbova, C |
| description | In a 2 6/12-years-old girl a complete trisomy 22 was verified with the G-banding (CTG-technique). She presented with Pierre-Robin-Sequence, cardiac and renal malformations, craniofacial dysmorphia and psychomotoric retardation as it often occurs in trisomy 22. Additionally, we observed tonic-clonic seizures, remarkable dumbles on both elbows and a clavicular anomaly. |
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She presented with Pierre-Robin-Sequence, cardiac and renal malformations, craniofacial dysmorphia and psychomotoric retardation as it often occurs in trisomy 22. 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Additionally, we observed tonic-clonic seizures, remarkable dumbles on both elbows and a clavicular anomaly.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Chromosomes, Human, Pair 22</subject><subject>Epilepsy, Tonic-Clonic - diagnosis</subject><subject>Epilepsy, Tonic-Clonic - genetics</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Phenotype</subject><subject>Pierre Robin Syndrome - diagnosis</subject><subject>Pierre Robin Syndrome - genetics</subject><subject>Trisomy</subject><issn>0026-9298</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNotjztrwzAURjW0pGnaqXMhUzfD1cNXumMxfQQCWdLZ6AkuVu1a9pB_30A9Hfg4fHBu2BZAYEWCzB27L-UbALgSfMM2RmmlUG_ZUzPksY9z3M9TV4Z82QvxwG6T7Ut8XLljX-9v5-azOp4-Ds3rsRq5NHNlakeOCNFqJVPkVtJ1BxkStygRQqiTIhI2aO8d-qQ8WCecs6g8-SR37OX_d5yG3yWWuc1d8bHv7U8cltLqGg0QyKv4vIqLyzG049RlO13atUL-AWljQK4</recordid><startdate>199303</startdate><enddate>199303</enddate><creator>Wollina, K</creator><creator>Seidel, J</creator><creator>Kirchner, M</creator><creator>Beensen, V</creator><creator>Kelbova, C</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>199303</creationdate><title>Complete trisomy 22</title><author>Wollina, K ; Seidel, J ; Kirchner, M ; Beensen, V ; Kelbova, C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p138t-85b9b9966a743fe1a3913803df1a6360dd5f4992ad7ccb6cf4c0ab2bba64c9cf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>ger</language><creationdate>1993</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Chromosomes, Human, Pair 22</topic><topic>Epilepsy, Tonic-Clonic - diagnosis</topic><topic>Epilepsy, Tonic-Clonic - genetics</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Phenotype</topic><topic>Pierre Robin Syndrome - diagnosis</topic><topic>Pierre Robin Syndrome - genetics</topic><topic>Trisomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wollina, K</creatorcontrib><creatorcontrib>Seidel, J</creatorcontrib><creatorcontrib>Kirchner, M</creatorcontrib><creatorcontrib>Beensen, V</creatorcontrib><creatorcontrib>Kelbova, C</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Monatsschrift Kinderheilkunde</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wollina, K</au><au>Seidel, J</au><au>Kirchner, M</au><au>Beensen, V</au><au>Kelbova, C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Complete trisomy 22</atitle><jtitle>Monatsschrift Kinderheilkunde</jtitle><addtitle>Monatsschr Kinderheilkd</addtitle><date>1993-03</date><risdate>1993</risdate><volume>141</volume><issue>3</issue><spage>211</spage><epage>213</epage><pages>211-213</pages><issn>0026-9298</issn><abstract>In a 2 6/12-years-old girl a complete trisomy 22 was verified with the G-banding (CTG-technique). She presented with Pierre-Robin-Sequence, cardiac and renal malformations, craniofacial dysmorphia and psychomotoric retardation as it often occurs in trisomy 22. Additionally, we observed tonic-clonic seizures, remarkable dumbles on both elbows and a clavicular anomaly.</abstract><cop>Germany</cop><pmid>8474467</pmid><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0026-9298 |
| ispartof | Monatsschrift Kinderheilkunde, 1993-03, Vol.141 (3), p.211-213 |
| issn | 0026-9298 |
| language | ger |
| recordid | cdi_proquest_miscellaneous_75680903 |
| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Chromosomes, Human, Pair 22 Epilepsy, Tonic-Clonic - diagnosis Epilepsy, Tonic-Clonic - genetics Female Follow-Up Studies Humans Infant Infant, Newborn Phenotype Pierre Robin Syndrome - diagnosis Pierre Robin Syndrome - genetics Trisomy |
| title | Complete trisomy 22 |
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