Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms
Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing...
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| Veröffentlicht in: | Human genetics 1997-01, Vol.99 (1), p.56-61 |
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| creator | BRØNDUM-NIELSEN, K BECK, B STAFANGER, G ZETTERQVIST, P TOMMERUP, N GYFTODIMOU, J HØRLYK, H LILJENBERG, U PETERSEN, M. B PEDERSEN, W PETERSEN, M. B SAND, A SKOVBY, F |
| description | Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling. |
| doi_str_mv | 10.1007/s004390050311 |
| format | Article |
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None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s004390050311</identifier><identifier>PMID: 9003495</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Pair 7 ; Dinucleotide Repeats ; DNA - chemistry ; DNA - genetics ; Elastin - genetics ; Female ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Medical genetics ; Medical sciences ; Mental and behavioral disorders ; Polymorphism, Genetic ; Williams Syndrome - genetics ; Williams Syndrome - physiopathology</subject><ispartof>Human genetics, 1997-01, Vol.99 (1), p.56-61</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c317t-82364a10b2757f36d39105533582c9a67a8f34bc062f0adc785e8a49fa981ded3</citedby></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=2502127$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9003495$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BRØNDUM-NIELSEN, K</creatorcontrib><creatorcontrib>BECK, B</creatorcontrib><creatorcontrib>STAFANGER, G</creatorcontrib><creatorcontrib>ZETTERQVIST, P</creatorcontrib><creatorcontrib>TOMMERUP, N</creatorcontrib><creatorcontrib>GYFTODIMOU, J</creatorcontrib><creatorcontrib>HØRLYK, H</creatorcontrib><creatorcontrib>LILJENBERG, U</creatorcontrib><creatorcontrib>PETERSEN, M. 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None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Banding</subject><subject>Chromosome Deletion</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Dinucleotide Repeats</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>Elastin - genetics</subject><subject>Female</subject><subject>Gene Deletion</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mental and behavioral disorders</subject><subject>Polymorphism, Genetic</subject><subject>Williams Syndrome - genetics</subject><subject>Williams Syndrome - physiopathology</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpV0MtLJDEQBvCwrLjj47jHhRyWPdlaeXU6R3V9DIgeVDw2me7EzdKdtKluYY7-5_bgIHiqgvrxQX2E_GRwzAD0CQJIYQAUCMa-kQWTgheMg_hOFiAkFKVm-gfZQ_wPwJThapfszl5IoxbkbRlfHY7h2Y4hRZo8bV3nNjtSO1L9wtgxFzREKiUdZuTiiDQ773J2LfUp06fQdcH2WJy5KbtIcR3bnHp3RCcM8ZleLu-vqY0bPGX69_aUDqlb9ykP_wL2eEB2vO3QHW7nPnm8vHg4vy5u7q6W56c3RSOYHouKi1JaBiuulfaibIVhoJQQquKNsaW2lRdy1UDJPdi20ZVylZXGW1Ox1rVin_z5yB1yepnmn-s-YOO6zkaXJqx1pY1SBmZYfMAmJ8T51XrIobd5XTOoN5XXXyqf_a9t8LTqXfuptx3P99_bu8XGdj7b2AT8ZFwBZ1yLd3meh0o</recordid><startdate>19970101</startdate><enddate>19970101</enddate><creator>BRØNDUM-NIELSEN, K</creator><creator>BECK, B</creator><creator>STAFANGER, G</creator><creator>ZETTERQVIST, P</creator><creator>TOMMERUP, N</creator><creator>GYFTODIMOU, J</creator><creator>HØRLYK, H</creator><creator>LILJENBERG, U</creator><creator>PETERSEN, M. 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B</creatorcontrib><creatorcontrib>PEDERSEN, W</creatorcontrib><creatorcontrib>PETERSEN, M. B</creatorcontrib><creatorcontrib>SAND, A</creatorcontrib><creatorcontrib>SKOVBY, F</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BRØNDUM-NIELSEN, K</au><au>BECK, B</au><au>STAFANGER, G</au><au>ZETTERQVIST, P</au><au>TOMMERUP, N</au><au>GYFTODIMOU, J</au><au>HØRLYK, H</au><au>LILJENBERG, U</au><au>PETERSEN, M. B</au><au>PEDERSEN, W</au><au>PETERSEN, M. B</au><au>SAND, A</au><au>SKOVBY, F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1997-01-01</date><risdate>1997</risdate><volume>99</volume><issue>1</issue><spage>56</spage><epage>61</epage><pages>56-61</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion encompasses closely linked DNA markers. We have investigated 44 patients referred for possible WS using fluorescence in situ hybridization (FISH) analysis with a P1 clone containing an insert from the ELN, as well as performing genotype analysis of patients and parents with four DNA polymorphisms. Twenty-four patients were found to have deletions, 19 of whom were found clinically to have typical WS. The facial features were especially characteristic. None of the patients without detectable deletions was reported to have typical WS features, although one had supravalvular aortic stenosis, hypercalcemia, and mental retardation. No evidence was found in this material for variability of the size of the deletion. Our study supports the usefulness of analysis of ELN deletion in WS patients, both for confirmation of diagnosis and for genetic counselling.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>9003495</pmid><doi>10.1007/s004390050311</doi><tpages>6</tpages></addata></record> |
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| ispartof | Human genetics, 1997-01, Vol.99 (1), p.56-61 |
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| subjects | Adolescent Adult Biological and medical sciences Child Child, Preschool Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 7 Dinucleotide Repeats DNA - chemistry DNA - genetics Elastin - genetics Female Gene Deletion Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Medical genetics Medical sciences Mental and behavioral disorders Polymorphism, Genetic Williams Syndrome - genetics Williams Syndrome - physiopathology |
| title | Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms |
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