Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA
Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine cytogenetic examination. The marker chromosomes were isolated by flow sorting and were amplified by degenerate oligonucleotide-primed PCR. These l...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 1994-05, Vol.54 (5), p.877-883 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 883 |
|---|---|
| container_issue | 5 |
| container_start_page | 877 |
| container_title | American journal of human genetics |
| container_volume | 54 |
| creator | BLENNOW, E TELENIUS, H DE VOS, D LARSSON, C HENRIKSSON, P JOHANSSON, Ö CARTER, N. P NORDENSKJÖLD, M |
| description | Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine cytogenetic examination. The marker chromosomes were isolated by flow sorting and were amplified by degenerate oligonucleotide-primed PCR. These libraries and a cosmid probe located at 15q26 were used to characterize the marker chromosomes by FISH. Both marker chromosomes were found to consist of duplicated chromosome material from the distal part of chromosome 15q and were identified as inv dup(15) (qter-->q23::q23-->qter) and inv dup(15) (qter-->q24::q24-->qter), respectively. Hence, the markers did not include any known centromere region, and no alpha-satellite DNA could be detected at the site of the primary constriction. Tetrasomy 15q may be a new syndrome, associated with a specific type of marker chromosome. In addition, further analyses of this type of marker chromosome might give new insight into the structure and function of the mammalian centromere. |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1918253</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>16917197</sourcerecordid><originalsourceid>FETCH-LOGICAL-o263t-73f710c00be9c6b1f07f2b479ad2f87ff9b0b60f40178cf2c96e42cacc6c0ea43</originalsourceid><addsrcrecordid>eNqFkUtLxDAUhYsoOj5-ghBE3BVukjYPF4L4hkE3ug7pncRW22ZsMor_3oCD6MpVFufj5DvcjWJGay5LIaDeLGYAwErNtNwpdmN8AaBUAd8uthWVSjE1K-aPLk02huGT0PrtlKSPQAY7vbqJYDuFIeTIRfLRpZaMgSxccphs0zti-2Vry2iT6_suOXJ5f75fbHnbR3ewfveKp-urx4vbcv5wc3dxPi8DEzyVkntJAQEap1E01IP0rKmktgvmlfReN9AI8BVkS_QMtXAVQ4soEJyt-F5x9t27XDWDW6Ab84beLKcuq3-aYDvzNxm71jyHd0M1VazmueDouyDE1JmI2R9bDOOYxxmhZQ1cZ-hk_csU3lYuJjN0EfNaO7qwikaKSinF-b8gFZpKqmUGD397_wivr5Hz43VuI9reT3bELv5gFeiqytgXPHuUow</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16917197</pqid></control><display><type>article</type><title>Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals Complete</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>BLENNOW, E ; TELENIUS, H ; DE VOS, D ; LARSSON, C ; HENRIKSSON, P ; JOHANSSON, Ö ; CARTER, N. P ; NORDENSKJÖLD, M</creator><creatorcontrib>BLENNOW, E ; TELENIUS, H ; DE VOS, D ; LARSSON, C ; HENRIKSSON, P ; JOHANSSON, Ö ; CARTER, N. P ; NORDENSKJÖLD, M</creatorcontrib><description>Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine cytogenetic examination. The marker chromosomes were isolated by flow sorting and were amplified by degenerate oligonucleotide-primed PCR. These libraries and a cosmid probe located at 15q26 were used to characterize the marker chromosomes by FISH. Both marker chromosomes were found to consist of duplicated chromosome material from the distal part of chromosome 15q and were identified as inv dup(15) (qter-->q23::q23-->qter) and inv dup(15) (qter-->q24::q24-->qter), respectively. Hence, the markers did not include any known centromere region, and no alpha-satellite DNA could be detected at the site of the primary constriction. Tetrasomy 15q may be a new syndrome, associated with a specific type of marker chromosome. In addition, further analyses of this type of marker chromosome might give new insight into the structure and function of the mammalian centromere.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 8178828</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Abnormalities, Multiple - genetics ; Adult ; ANEUPLOIDY ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; Child, Preschool ; chromosome 15 ; Chromosome Aberrations ; Chromosome Mapping ; CHROMOSOMES ; Chromosomes, Human, Pair 15 ; CONGENITAL MALFORMATIONS ; DETECTION ; DNA HYBRIDIZATION ; DNA Primers ; DNA, Satellite - analysis ; Female ; Genetic Markers ; HUMAN CHROMOSOME 15 ; HUMAN CHROMOSOMES ; Humans ; HYBRIDIZATION ; In Situ Hybridization, Fluorescence ; Karyotyping ; lymphocytes ; Lymphocytes - pathology ; Male ; MALFORMATIONS ; man ; markers ; Medical genetics ; Medical sciences ; PATHOLOGICAL CHANGES ; Phenotype ; PLOIDY 550400 -- Genetics ; Polymerase Chain Reaction ; repeated sequence ; satellite DNA ; tetrasomy ; Trisomy</subject><ispartof>American journal of human genetics, 1994-05, Vol.54 (5), p.877-883</ispartof><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918253/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918253/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4094428$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8178828$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6975039$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>BLENNOW, E</creatorcontrib><creatorcontrib>TELENIUS, H</creatorcontrib><creatorcontrib>DE VOS, D</creatorcontrib><creatorcontrib>LARSSON, C</creatorcontrib><creatorcontrib>HENRIKSSON, P</creatorcontrib><creatorcontrib>JOHANSSON, Ö</creatorcontrib><creatorcontrib>CARTER, N. P</creatorcontrib><creatorcontrib>NORDENSKJÖLD, M</creatorcontrib><title>Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine cytogenetic examination. The marker chromosomes were isolated by flow sorting and were amplified by degenerate oligonucleotide-primed PCR. These libraries and a cosmid probe located at 15q26 were used to characterize the marker chromosomes by FISH. Both marker chromosomes were found to consist of duplicated chromosome material from the distal part of chromosome 15q and were identified as inv dup(15) (qter-->q23::q23-->qter) and inv dup(15) (qter-->q24::q24-->qter), respectively. Hence, the markers did not include any known centromere region, and no alpha-satellite DNA could be detected at the site of the primary constriction. Tetrasomy 15q may be a new syndrome, associated with a specific type of marker chromosome. In addition, further analyses of this type of marker chromosome might give new insight into the structure and function of the mammalian centromere.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>ANEUPLOIDY</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>chromosome 15</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 15</subject><subject>CONGENITAL MALFORMATIONS</subject><subject>DETECTION</subject><subject>DNA HYBRIDIZATION</subject><subject>DNA Primers</subject><subject>DNA, Satellite - analysis</subject><subject>Female</subject><subject>Genetic Markers</subject><subject>HUMAN CHROMOSOME 15</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>HYBRIDIZATION</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>lymphocytes</subject><subject>Lymphocytes - pathology</subject><subject>Male</subject><subject>MALFORMATIONS</subject><subject>man</subject><subject>markers</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>PATHOLOGICAL CHANGES</subject><subject>Phenotype</subject><subject>PLOIDY 550400 -- Genetics</subject><subject>Polymerase Chain Reaction</subject><subject>repeated sequence</subject><subject>satellite DNA</subject><subject>tetrasomy</subject><subject>Trisomy</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtLxDAUhYsoOj5-ghBE3BVukjYPF4L4hkE3ug7pncRW22ZsMor_3oCD6MpVFufj5DvcjWJGay5LIaDeLGYAwErNtNwpdmN8AaBUAd8uthWVSjE1K-aPLk02huGT0PrtlKSPQAY7vbqJYDuFIeTIRfLRpZaMgSxccphs0zti-2Vry2iT6_suOXJ5f75fbHnbR3ewfveKp-urx4vbcv5wc3dxPi8DEzyVkntJAQEap1E01IP0rKmktgvmlfReN9AI8BVkS_QMtXAVQ4soEJyt-F5x9t27XDWDW6Ab84beLKcuq3-aYDvzNxm71jyHd0M1VazmueDouyDE1JmI2R9bDOOYxxmhZQ1cZ-hk_csU3lYuJjN0EfNaO7qwikaKSinF-b8gFZpKqmUGD397_wivr5Hz43VuI9reT3bELv5gFeiqytgXPHuUow</recordid><startdate>19940501</startdate><enddate>19940501</enddate><creator>BLENNOW, E</creator><creator>TELENIUS, H</creator><creator>DE VOS, D</creator><creator>LARSSON, C</creator><creator>HENRIKSSON, P</creator><creator>JOHANSSON, Ö</creator><creator>CARTER, N. P</creator><creator>NORDENSKJÖLD, M</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19940501</creationdate><title>Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA</title><author>BLENNOW, E ; TELENIUS, H ; DE VOS, D ; LARSSON, C ; HENRIKSSON, P ; JOHANSSON, Ö ; CARTER, N. P ; NORDENSKJÖLD, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-o263t-73f710c00be9c6b1f07f2b479ad2f87ff9b0b60f40178cf2c96e42cacc6c0ea43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>ANEUPLOIDY</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>chromosome 15</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Mapping</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 15</topic><topic>CONGENITAL MALFORMATIONS</topic><topic>DETECTION</topic><topic>DNA HYBRIDIZATION</topic><topic>DNA Primers</topic><topic>DNA, Satellite - analysis</topic><topic>Female</topic><topic>Genetic Markers</topic><topic>HUMAN CHROMOSOME 15</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>HYBRIDIZATION</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>lymphocytes</topic><topic>Lymphocytes - pathology</topic><topic>Male</topic><topic>MALFORMATIONS</topic><topic>man</topic><topic>markers</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>PATHOLOGICAL CHANGES</topic><topic>Phenotype</topic><topic>PLOIDY 550400 -- Genetics</topic><topic>Polymerase Chain Reaction</topic><topic>repeated sequence</topic><topic>satellite DNA</topic><topic>tetrasomy</topic><topic>Trisomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BLENNOW, E</creatorcontrib><creatorcontrib>TELENIUS, H</creatorcontrib><creatorcontrib>DE VOS, D</creatorcontrib><creatorcontrib>LARSSON, C</creatorcontrib><creatorcontrib>HENRIKSSON, P</creatorcontrib><creatorcontrib>JOHANSSON, Ö</creatorcontrib><creatorcontrib>CARTER, N. P</creatorcontrib><creatorcontrib>NORDENSKJÖLD, M</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BLENNOW, E</au><au>TELENIUS, H</au><au>DE VOS, D</au><au>LARSSON, C</au><au>HENRIKSSON, P</au><au>JOHANSSON, Ö</au><au>CARTER, N. P</au><au>NORDENSKJÖLD, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1994-05-01</date><risdate>1994</risdate><volume>54</volume><issue>5</issue><spage>877</spage><epage>883</epage><pages>877-883</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine cytogenetic examination. The marker chromosomes were isolated by flow sorting and were amplified by degenerate oligonucleotide-primed PCR. These libraries and a cosmid probe located at 15q26 were used to characterize the marker chromosomes by FISH. Both marker chromosomes were found to consist of duplicated chromosome material from the distal part of chromosome 15q and were identified as inv dup(15) (qter-->q23::q23-->qter) and inv dup(15) (qter-->q24::q24-->qter), respectively. Hence, the markers did not include any known centromere region, and no alpha-satellite DNA could be detected at the site of the primary constriction. Tetrasomy 15q may be a new syndrome, associated with a specific type of marker chromosome. In addition, further analyses of this type of marker chromosome might give new insight into the structure and function of the mammalian centromere.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>8178828</pmid><tpages>7</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1994-05, Vol.54 (5), p.877-883 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1918253 |
| source | MEDLINE; Elsevier ScienceDirect Journals Complete; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Abnormalities, Multiple - genetics Adult ANEUPLOIDY BASIC BIOLOGICAL SCIENCES Biological and medical sciences Child, Preschool chromosome 15 Chromosome Aberrations Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 15 CONGENITAL MALFORMATIONS DETECTION DNA HYBRIDIZATION DNA Primers DNA, Satellite - analysis Female Genetic Markers HUMAN CHROMOSOME 15 HUMAN CHROMOSOMES Humans HYBRIDIZATION In Situ Hybridization, Fluorescence Karyotyping lymphocytes Lymphocytes - pathology Male MALFORMATIONS man markers Medical genetics Medical sciences PATHOLOGICAL CHANGES Phenotype PLOIDY 550400 -- Genetics Polymerase Chain Reaction repeated sequence satellite DNA tetrasomy Trisomy |
| title | Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T01%3A53%3A38IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Tetrasomy%2015q:%20two%20marker%20chromosomes%20with%20no%20detectable%20alpha-satellite%20DNA&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=BLENNOW,%20E&rft.date=1994-05-01&rft.volume=54&rft.issue=5&rft.spage=877&rft.epage=883&rft.pages=877-883&rft.issn=0002-9297&rft.eissn=1537-6605&rft.coden=AJHGAG&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E16917197%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=16917197&rft_id=info:pmid/8178828&rfr_iscdi=true |