A deletion in chromosome 22 can cause DiGeorge syndrome
An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiG...
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| Veröffentlicht in: | Human genetics 1981-01, Vol.57 (3), p.253-256 |
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| container_issue | 3 |
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| container_title | Human genetics |
| container_volume | 57 |
| creator | de la Chapelle, A Herva, R Koivisto, M Aula, P |
| description | An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11. |
| doi_str_mv | 10.1007/BF00278938 |
| format | Article |
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These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00278938</identifier><identifier>PMID: 7250965</identifier><language>eng</language><publisher>Germany</publisher><subject>Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, 19-20 ; Chromosomes, Human, 21-22 and Y ; DiGeorge Syndrome - genetics ; Female ; Humans ; Immunologic Deficiency Syndromes - genetics ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Translocation, Genetic ; Trisomy</subject><ispartof>Human genetics, 1981-01, Vol.57 (3), p.253-256</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c313t-1873dfead5810d2423826a0d20446779e6d00e2216d20672121e45ed0ddae0003</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7250965$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>de la Chapelle, A</creatorcontrib><creatorcontrib>Herva, R</creatorcontrib><creatorcontrib>Koivisto, M</creatorcontrib><creatorcontrib>Aula, P</creatorcontrib><title>A deletion in chromosome 22 can cause DiGeorge syndrome</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.</description><subject>Child, Preschool</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, 19-20</subject><subject>Chromosomes, Human, 21-22 and Y</subject><subject>DiGeorge Syndrome - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Translocation, Genetic</subject><subject>Trisomy</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1981</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0L1PwzAQBXALgUopLOxInhiQAnf-zlgKLUiVWGCOTHyFoCQucTP0v29QKxiZ7vT00xseY5cItwhg7-7nAMK6XLojNkYlRYYC5DEbg1SQGYv2lJ2l9AWAOhd6xEZWaMiNHjM75YFq2lSx5VXLy88uNjHFhrgQvPRD4vtE_KFaUOw-iKdtGwZC5-xk5etEF4c7YW_zx9fZU7Z8WTzPpsuslCg3GTorw4p80A4hCCWkE8YPHyhlrM3JBAASAs0QGStQIClNAULwBABywq73vesufveUNkVTpZLq2rcU-1RYqZWTiP9C1NJo5-QAb_aw7GJKHa2KdVc1vtsWCMXPnMXfnAO-OrT27w2FX3rYT-4Ap7pryw</recordid><startdate>19810101</startdate><enddate>19810101</enddate><creator>de la Chapelle, A</creator><creator>Herva, R</creator><creator>Koivisto, M</creator><creator>Aula, P</creator><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19810101</creationdate><title>A deletion in chromosome 22 can cause DiGeorge syndrome</title><author>de la Chapelle, A ; Herva, R ; Koivisto, M ; Aula, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c313t-1873dfead5810d2423826a0d20446779e6d00e2216d20672121e45ed0ddae0003</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1981</creationdate><topic>Child, Preschool</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, 19-20</topic><topic>Chromosomes, Human, 21-22 and Y</topic><topic>DiGeorge Syndrome - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Immunologic Deficiency Syndromes - genetics</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Translocation, Genetic</topic><topic>Trisomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de la Chapelle, A</creatorcontrib><creatorcontrib>Herva, R</creatorcontrib><creatorcontrib>Koivisto, M</creatorcontrib><creatorcontrib>Aula, P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>de la Chapelle, A</au><au>Herva, R</au><au>Koivisto, M</au><au>Aula, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A deletion in chromosome 22 can cause DiGeorge syndrome</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1981-01-01</date><risdate>1981</risdate><volume>57</volume><issue>3</issue><spage>253</spage><epage>256</epage><pages>253-256</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><abstract>An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.</abstract><cop>Germany</cop><pmid>7250965</pmid><doi>10.1007/BF00278938</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6717 |
| ispartof | Human genetics, 1981-01, Vol.57 (3), p.253-256 |
| issn | 0340-6717 1432-1203 |
| language | eng |
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| source | MEDLINE; SpringerNature Complete Journals |
| subjects | Child, Preschool Chromosome Deletion Chromosomes, Human, 19-20 Chromosomes, Human, 21-22 and Y DiGeorge Syndrome - genetics Female Humans Immunologic Deficiency Syndromes - genetics Infant Infant, Newborn Karyotyping Male Translocation, Genetic Trisomy |
| title | A deletion in chromosome 22 can cause DiGeorge syndrome |
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