Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome
We have obtained lymphoblastoid cell lines from three patients with Langer-Giedion syndrome who have over-lapping deletions in 8q24.1. To isolate the deletion chromosomes from their normal homologs, patient cell lines were fused with hamster cells and hybrid cells were selected for retention of huma...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1991-09, Vol.11 (1), p.54-61 |
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| container_title | Genomics (San Diego, Calif.) |
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| creator | Parrish, Julia E. Wagner, Michael J. Hecht, Jacqueline T. Scott, Charles I. Wells, Dan E. |
| description | We have obtained lymphoblastoid cell lines from three patients with Langer-Giedion syndrome who have over-lapping deletions in 8q24.1. To isolate the deletion chromosomes from their normal homologs, patient cell lines were fused with hamster cells and hybrid cells were selected for retention of human chromosome 8. These hybrid cell lines were screened for the presence of chromosome 8 by fluorescence
in situ hybridization and by Southern blot hybridization. We have hybridized 31 recombinant DNA clones derived from the 8q22-qter region to Southern blots of the hybrid cell lines; 8 were found to lie within the deletion of at least one patient. One clone identified sequences that were missing from one copy of chromosome 8 in all three patients. These clones help to further define the deletions in these patients and will serve as starting points for detailed characterization of the region. |
| doi_str_mv | 10.1016/0888-7543(91)90101-J |
| format | Article |
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in situ hybridization and by Southern blot hybridization. We have hybridized 31 recombinant DNA clones derived from the 8q22-qter region to Southern blots of the hybrid cell lines; 8 were found to lie within the deletion of at least one patient. One clone identified sequences that were missing from one copy of chromosome 8 in all three patients. These clones help to further define the deletions in these patients and will serve as starting points for detailed characterization of the region.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1016/0888-7543(91)90101-J</identifier><identifier>PMID: 1684953</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Animals ; Biological and medical sciences ; Cell Line ; chromosome 8 ; Chromosome Deletion ; Chromosome Mapping ; Chromosomes, Human, Pair 8 ; Cricetinae ; deletion ; Diseases of the osteoarticular system ; Humans ; Hybrid Cells ; Langer-Giedion Syndrome - genetics ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Medical sciences ; Nucleic Acid Hybridization ; Polymorphism, Restriction Fragment Length</subject><ispartof>Genomics (San Diego, Calif.), 1991-09, Vol.11 (1), p.54-61</ispartof><rights>1991</rights><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c418t-2db041294df73c1e39fb05f9de9e55b452b9a08e8f48ed36e5f9d4330c44725f3</citedby><cites>FETCH-LOGICAL-c418t-2db041294df73c1e39fb05f9de9e55b452b9a08e8f48ed36e5f9d4330c44725f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/088875439190101J$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19843671$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1684953$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Parrish, Julia E.</creatorcontrib><creatorcontrib>Wagner, Michael J.</creatorcontrib><creatorcontrib>Hecht, Jacqueline T.</creatorcontrib><creatorcontrib>Scott, Charles I.</creatorcontrib><creatorcontrib>Wells, Dan E.</creatorcontrib><title>Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>We have obtained lymphoblastoid cell lines from three patients with Langer-Giedion syndrome who have over-lapping deletions in 8q24.1. To isolate the deletion chromosomes from their normal homologs, patient cell lines were fused with hamster cells and hybrid cells were selected for retention of human chromosome 8. These hybrid cell lines were screened for the presence of chromosome 8 by fluorescence
in situ hybridization and by Southern blot hybridization. We have hybridized 31 recombinant DNA clones derived from the 8q22-qter region to Southern blots of the hybrid cell lines; 8 were found to lie within the deletion of at least one patient. One clone identified sequences that were missing from one copy of chromosome 8 in all three patients. These clones help to further define the deletions in these patients and will serve as starting points for detailed characterization of the region.</description><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Cell Line</subject><subject>chromosome 8</subject><subject>Chromosome Deletion</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 8</subject><subject>Cricetinae</subject><subject>deletion</subject><subject>Diseases of the osteoarticular system</subject><subject>Humans</subject><subject>Hybrid Cells</subject><subject>Langer-Giedion Syndrome - genetics</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Medical sciences</subject><subject>Nucleic Acid Hybridization</subject><subject>Polymorphism, Restriction Fragment Length</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkcGOFCEURYnRjO3oH2jCRqOLUiigGjYmZqKjkzZudI0UPGYwFJRQPab_XsruODtdkbx37g05D6GnlLymhA5viJSy2wrOXir6SpE2667uoQ0lUnVy4MN9tPmLPESPav1BCFFM9mfojA6SK8E26PvnHMHuoynYJBMPNVScPc63UKKZ55Cusb0peco1TyZiBxGWkFPFIeHZLAHSUvGvsNzgnUnXULrLAK4BuB6Sazl4jB54Eys8Ob3n6NuH918vPna7L5efLt7tOsupXLrejYTTXnHnt8xSYMqPRHjlQIEQIxf9qAyRID2X4NgA644zRizn2154do5eHHvnkn_uoS56CtVCjCZB3lfdICVWFf8D6UAGSohoID-CtuRaC3g9lzCZctCU6PUCetWr106tqP5zAX3VYs9O_ftxAncXOipv--envanWRF9MsqHeYUpyNmxp494eOWjWbgMUXW3TbZveAnbRLod_f-Q3XEKjlQ</recordid><startdate>19910901</startdate><enddate>19910901</enddate><creator>Parrish, Julia E.</creator><creator>Wagner, Michael J.</creator><creator>Hecht, Jacqueline T.</creator><creator>Scott, Charles I.</creator><creator>Wells, Dan E.</creator><general>Elsevier Inc</general><general>Elsevier</general><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>RC3</scope><scope>7X8</scope></search><sort><creationdate>19910901</creationdate><title>Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome</title><author>Parrish, Julia E. ; Wagner, Michael J. ; Hecht, Jacqueline T. ; Scott, Charles I. ; Wells, Dan E.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c418t-2db041294df73c1e39fb05f9de9e55b452b9a08e8f48ed36e5f9d4330c44725f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Cell Line</topic><topic>chromosome 8</topic><topic>Chromosome Deletion</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 8</topic><topic>Cricetinae</topic><topic>deletion</topic><topic>Diseases of the osteoarticular system</topic><topic>Humans</topic><topic>Hybrid Cells</topic><topic>Langer-Giedion Syndrome - genetics</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Medical sciences</topic><topic>Nucleic Acid Hybridization</topic><topic>Polymorphism, Restriction Fragment Length</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Parrish, Julia E.</creatorcontrib><creatorcontrib>Wagner, Michael J.</creatorcontrib><creatorcontrib>Hecht, Jacqueline T.</creatorcontrib><creatorcontrib>Scott, Charles I.</creatorcontrib><creatorcontrib>Wells, Dan E.</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>Human Genome Abstracts</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>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Parrish, Julia E.</au><au>Wagner, Michael J.</au><au>Hecht, Jacqueline T.</au><au>Scott, Charles I.</au><au>Wells, Dan E.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1991-09-01</date><risdate>1991</risdate><volume>11</volume><issue>1</issue><spage>54</spage><epage>61</epage><pages>54-61</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>We have obtained lymphoblastoid cell lines from three patients with Langer-Giedion syndrome who have over-lapping deletions in 8q24.1. To isolate the deletion chromosomes from their normal homologs, patient cell lines were fused with hamster cells and hybrid cells were selected for retention of human chromosome 8. These hybrid cell lines were screened for the presence of chromosome 8 by fluorescence
in situ hybridization and by Southern blot hybridization. We have hybridized 31 recombinant DNA clones derived from the 8q22-qter region to Southern blots of the hybrid cell lines; 8 were found to lie within the deletion of at least one patient. One clone identified sequences that were missing from one copy of chromosome 8 in all three patients. These clones help to further define the deletions in these patients and will serve as starting points for detailed characterization of the region.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>1684953</pmid><doi>10.1016/0888-7543(91)90101-J</doi><tpages>8</tpages></addata></record> |
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| ispartof | Genomics (San Diego, Calif.), 1991-09, Vol.11 (1), p.54-61 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Animals Biological and medical sciences Cell Line chromosome 8 Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 8 Cricetinae deletion Diseases of the osteoarticular system Humans Hybrid Cells Langer-Giedion Syndrome - genetics Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Nucleic Acid Hybridization Polymorphism, Restriction Fragment Length |
| title | Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome |
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