{"id":"https://openalex.org/W1985704382","doi":"https://doi.org/10.1034/j.1399-0004.1999.550209.x","title":"Centromere\u2013telomere (12;8p) fusion, telomeric 12q translocation, and i(12p) trisomy 1","display_name":"Centromere\u2013telomere (12;8p) fusion, telomeric 12q translocation, and i(12p) trisomy 1","publication_year":1999,"publication_date":"1999-02-01","ids":{"openalex":"https://openalex.org/W1985704382","doi":"https://doi.org/10.1034/j.1399-0004.1999.550209.x","mag":"1985704382","pmid":"https://pubmed.ncbi.nlm.nih.gov/10189090"},"language":"en","primary_location":{"id":"doi:10.1034/j.1399-0004.1999.550209.x","doi":"https://doi.org/10.1034/j.1399-0004.1999.550209.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.1999.550209.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5039028521","display_name":"Horacio Rivera","orcid":"https://orcid.org/0000-0001-6940-0668","observed_orcids":["https://orcid.org/0000-0001-6940-0668"]},"institutions":[{"id":"https://openalex.org/I164915025","display_name":"Mexican Social Security Institute","ror":"https://ror.org/03xddgg98","country_code":"MX","type":"government","lineage":["https://openalex.org/I164915025"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Horacio Rivera","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico. hrivera@udgserv.cencar.udg.mx","Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico. hrivera@udgserv.cencar.udg.mx","institution_ids":["https://openalex.org/I164915025"]},{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., M\u00e9xico","institution_ids":["https://openalex.org/I164915025"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058077084","display_name":"Ana Isabel V\u00e1squez","orcid":"https://orcid.org/0000-0002-3257-1663","observed_orcids":["https://orcid.org/0000-0002-3257-1663"]},"institutions":[{"id":"https://openalex.org/I164915025","display_name":"Mexican Social Security Institute","ror":"https://ror.org/03xddgg98","country_code":"MX","type":"government","lineage":["https://openalex.org/I164915025"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Ana Isabel V\u00e1squez","raw_affiliation_strings":["Centro de Investigacio\u0301n Biome\u0301dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico","Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigacio\u0301n Biome\u0301dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico","institution_ids":["https://openalex.org/I164915025"]},{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., M\u00e9xico","institution_ids":["https://openalex.org/I164915025"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073718612","display_name":"Francisco Javier Perea","orcid":"https://orcid.org/0000-0003-4227-4539","observed_orcids":["https://orcid.org/0000-0003-4227-4539"]},"institutions":[{"id":"https://openalex.org/I164915025","display_name":"Mexican Social Security Institute","ror":"https://ror.org/03xddgg98","country_code":"MX","type":"government","lineage":["https://openalex.org/I164915025"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Francisco J Perea","raw_affiliation_strings":["Centro de Investigacio\u0301n Biome\u0301dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico","Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., M\u00e9xico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigacio\u0301n Biome\u0301dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., Mexico","institution_ids":["https://openalex.org/I164915025"]},{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jal., M\u00e9xico","institution_ids":["https://openalex.org/I164915025"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I164915025"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":2.1166,"has_fulltext":false,"cited_by_count":65,"citation_normalized_percentile":{"value":0.86217171,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"55","issue":"2","first_page":"122","last_page":"126"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9531000256538391,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9531000256538391,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10434","display_name":"Chromosomal and Genetic Variations","score":0.025299999862909317,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13664","display_name":"Genome Rearrangement Algorithms","score":0.007799999788403511,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/isochromosome-12p","display_name":"isochromosome 12p","score":0.9200000166893005},{"id":"https://openalex.org/keywords/centric-fission","display_name":"centric fission","score":0.7310000061988831},{"id":"https://openalex.org/keywords/jumping-translocation","display_name":"jumping translocation","score":0.7350000143051147}],"concepts":[{"id":"https://openalex.org/C57269778","wikidata":"https://www.wikidata.org/wiki/Q900950","display_name":"Isochromosome","level":5,"score":0.9299266338348389},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.8231011629104614},{"id":"https://openalex.org/C63491729","wikidata":"https://www.wikidata.org/wiki/Q14762596","display_name":"Centromere","level":4,"score":0.7839881181716919},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7452455759048462},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.6928882002830505},{"id":"https://openalex.org/C103037022","wikidata":"https://www.wikidata.org/wiki/Q5272374","display_name":"Dicentric chromosome","level":5,"score":0.5909615755081177},{"id":"https://openalex.org/C177336024","wikidata":"https://www.wikidata.org/wiki/Q14872779","display_name":"Telomere","level":3,"score":0.5221852660179138},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5143343210220337},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.5048094987869263},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4445376992225647},{"id":"https://openalex.org/C177658893","wikidata":"https://www.wikidata.org/wiki/Q847102","display_name":"Chromosome 12","level":4,"score":0.42117446660995483},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.41546013951301575},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.32667845487594604},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.28449195623397827},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.112418532371521},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08363249897956848}],"mesh":[{"descriptor_ui":"D002503","descriptor_name":"Centromere","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002881","descriptor_name":"Chromosomes, Human, Pair 12","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016615","descriptor_name":"Telomere","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1034/j.1399-0004.1999.550209.x","doi":"https://doi.org/10.1034/j.1399-0004.1999.550209.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.1999.550209.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:10189090","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10189090","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321739","display_name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","ror":"https://ror.org/059ex5q34"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W60893217","https://openalex.org/W208022150","https://openalex.org/W1490209070","https://openalex.org/W1970426895","https://openalex.org/W1979529780","https://openalex.org/W1991892616","https://openalex.org/W1998929727","https://openalex.org/W2001964327","https://openalex.org/W2016023093","https://openalex.org/W2017610559","https://openalex.org/W2026554732","https://openalex.org/W2031164360","https://openalex.org/W2038273555","https://openalex.org/W2038709917","https://openalex.org/W2042244417","https://openalex.org/W2047530148","https://openalex.org/W2059926050","https://openalex.org/W2068356597","https://openalex.org/W2078666572","https://openalex.org/W2081507954","https://openalex.org/W2089306854","https://openalex.org/W2101180383","https://openalex.org/W2118668287","https://openalex.org/W2138763401","https://openalex.org/W2167823060","https://openalex.org/W2243126862","https://openalex.org/W2402987345"],"related_works":["https://openalex.org/W2016023093","https://openalex.org/W2037100997","https://openalex.org/W2466995550","https://openalex.org/W2090953035","https://openalex.org/W2091519890","https://openalex.org/W2494417699","https://openalex.org/W2017610559","https://openalex.org/W2021211172","https://openalex.org/W2000540358","https://openalex.org/W2792617396"],"abstract_inverted_index":{"The":[0],"concurrence":[1],"of":[2,10,15,22,54,93,130,166,172,201,229,234],"a":[3,8,20,76,84,126,139,154,185,222],"short":[4],"arm":[5,14],"isochromosome":[6],"and":[7,83,112,144,217,238],"translocation":[9,137],"the":[11,16,80,90,94,97,106,115,122,135,145,148,169,173,230,235],"entire":[12],"long":[13],"same":[17],"chromosome":[18,131],"to":[19,50,62,134,220,226],"telomere":[21,142,156,160],"another":[23,113,199],"chromosome,":[24],"implying":[25],"trisomy":[26],"for":[27],"4p,":[28],"5p,":[29],"7p,":[30],"9p,":[31],"10p":[32],"or":[33],"12p,":[34],"has":[35,161],"been":[36,153,162,206,213],"described":[37],"in":[38,46,57,178],"13":[39],"patients.":[40],"We":[41],"have":[42,152,204,212],"now":[43],"used":[44],"fluorescence":[45],"situ":[47],"hybrization":[48],"(FISH)":[49],"better":[51],"characterize":[52],"one":[53,108],"these":[55],"rearrangements":[56],"which":[58],"12q":[59,136,202],"was":[60,66,125],"translocated":[61,236],"8pter,":[63],"whereas":[64,96],"12p":[65],"converted":[67],"into":[68],"an":[69],"isochromosome.":[70],"An":[71,158],"alphoid":[72],"centromere-12":[73],"repeat":[74],"gave":[75],"strong":[77],"signal":[78,88],"on":[79,105],"i(":[81],"2p)":[82],"weak":[85],"but":[86],"distinct":[87],"at":[89,109,114,168],"breakpoint":[91,116,170],"junction":[92,171],"der(8),":[95],"pantelomeric":[98],"probe":[99],"revealed":[100],"three":[101],"clear":[102],"hybridization":[103],"sites":[104],"der(8):":[107],"each":[110],"end":[111],"junction.":[117],"These":[118,209],"findings":[119],"suggest":[120],"that":[121],"prime":[123],"event":[124,150],"post-fertilization":[127],"centric":[128],"fission":[129],"12":[132],"leading":[133],"via":[138],"real":[140],"centromere":[141,155],"fusion":[143],"i(12p).":[146],"Alternatively,":[147],"crucial":[149],"may":[151],"recombination.":[157],"interstitial":[159],"documented":[163],"by":[164,195],"means":[165],"FISH":[167],"sole":[174],"derivative":[175],"usually":[176],"present":[177],"20":[179],"constitutional":[180],"translocations":[181,193,211],"including":[182,198],"eight":[183],"with":[184],"jumping":[186,207,223],"behavior.":[187],"In":[188],"addition,":[189],"six":[190],"other":[191],"telomeric":[192,210],"defined":[194],"banding":[196],"methods,":[197],"case":[200],"translocation/i(12p),":[203],"also":[205],"ones.":[208],"de":[214],"noro":[215],"events":[216],"their":[218],"proneness":[219],"exhibit":[221],"behavior":[224],"appears":[225],"be":[227],"independent":[228],"involved":[231],"chromosomes,":[232],"size":[233],"segments,":[237],"concomitant":[239],"abnormalities.":[240]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
