{"id":"https://openalex.org/W2005992567","doi":"https://doi.org/10.1002/ajmg.1320080207","title":"Long survival in Trisomy\u201013\u2010syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old","display_name":"Long survival in Trisomy\u201013\u2010syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old","publication_year":1981,"publication_date":"1981-01-01","ids":{"openalex":"https://openalex.org/W2005992567","doi":"https://doi.org/10.1002/ajmg.1320080207","mag":"2005992567","pmid":"https://pubmed.ncbi.nlm.nih.gov/7282771"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.1320080207","doi":"https://doi.org/10.1002/ajmg.1320080207","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320080207","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5030998768","display_name":"R. Redheendran","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"R. Redheendran","raw_affiliation_strings":["Division of Human Genetics, Departments of Medicine and Pediatrics, State University of New York at Buffalo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Departments of Medicine and Pediatrics, State University of New York at Buffalo","institution_ids":["https://openalex.org/I63190737"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034854077","display_name":"R L Neu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. L. Neu","raw_affiliation_strings":["Division of Human Genetics, Departments of Medicine and Pediatrics, State University of New York at Buffalo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Departments of Medicine and Pediatrics, State University of New York at Buffalo","institution_ids":["https://openalex.org/I63190737"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066628579","display_name":"R. M. Bannerman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I63190737","display_name":"University at Buffalo, State University of New York","ror":"https://ror.org/01y64my43","country_code":"US","type":"education","lineage":["https://openalex.org/I63190737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. M. Bannerman","raw_affiliation_strings":["Division of Human Genetics, Departments of Medicine and Pediatrics, State University of New York at Buffalo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Human Genetics, Departments of Medicine and Pediatrics, State University of New York at Buffalo","institution_ids":["https://openalex.org/I63190737"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074375882","display_name":"John M. Opitz","orcid":"https://orcid.org/0000-0002-6991-8835","observed_orcids":["https://orcid.org/0000-0002-6991-8835"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John M. Opitz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5030998768"],"corresponding_institution_ids":["https://openalex.org/I63190737"],"apc_list":null,"apc_paid":null,"fwci":1.9843,"has_fulltext":false,"cited_by_count":77,"citation_normalized_percentile":{"value":0.85948317,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"8","issue":"2","first_page":"167","last_page":"172"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.48170000314712524,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.48170000314712524,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.07980000227689743,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12716","display_name":"Congenital Anomalies and Fetal Surgery","score":0.06499999761581421,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/trisomy-13","display_name":"trisomy 13","score":0.9670000076293945},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.6290000081062317},{"id":"https://openalex.org/keywords/karyotype","display_name":"karyotype","score":0.7440000176429749},{"id":"https://openalex.org/keywords/long-term-survival","display_name":"long-term survival","score":0.628000020980835},{"id":"https://openalex.org/keywords/mosaicism","display_name":"mosaicism","score":0.5519999861717224},{"id":"https://openalex.org/keywords/cytogenetic-analysis","display_name":"cytogenetic analysis","score":0.5669999718666077}],"concepts":[{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.7282668948173523},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.5600023865699768},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46989771723747253},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4302193522453308},{"id":"https://openalex.org/C2779954681","wikidata":"https://www.wikidata.org/wiki/Q47715","display_name":"Down syndrome","level":2,"score":0.42850592732429504},{"id":"https://openalex.org/C10515644","wikidata":"https://www.wikidata.org/wiki/Q543310","display_name":"Survival analysis","level":2,"score":0.4133957624435425},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3871319890022278},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3730006814002991},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.33566319942474365},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.1303844451904297},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07331022620201111}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002901","descriptor_name":"Chromosomes, Human, 13-15","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002901","descriptor_name":"Chromosomes, Human, 13-15","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002901","descriptor_name":"Chromosomes, Human, 13-15","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.1320080207","doi":"https://doi.org/10.1002/ajmg.1320080207","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320080207","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:7282771","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7282771","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":"American journal of medical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.6600000262260437,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":8,"referenced_works":["https://openalex.org/W1981716949","https://openalex.org/W2073214780","https://openalex.org/W2076906556","https://openalex.org/W2089001389","https://openalex.org/W2092152159","https://openalex.org/W2123549738","https://openalex.org/W2160185522","https://openalex.org/W2201027385"],"related_works":["https://openalex.org/W2389887547","https://openalex.org/W4239116640","https://openalex.org/W1979441385","https://openalex.org/W1973651439","https://openalex.org/W2122583087","https://openalex.org/W2751083403","https://openalex.org/W2780953284","https://openalex.org/W2376635317","https://openalex.org/W2028550247","https://openalex.org/W57067884"],"abstract_inverted_index":{"The":[0,40,60,103],"mean":[1,41],"survival":[2,42],"in":[3,20,99],"Trisomy-13-syndrome":[4],"patients":[5,29,46,53,63],"is":[6,106],"reported":[7],"to":[8],"be":[9],"130":[10],"days.":[11],"We":[12],"have":[13,80,86],"diagnosed":[14],"21":[15],"cases":[16],"of":[17,43,89,92],"this":[18,21],"syndrome":[19],"institution":[22],"(11":[23],"females":[24],"and":[25,34,71,85],"10":[26],"males);":[27],"15":[28],"had":[30,36,87],"regular":[31,57,81,113],"trisomy":[32,58,65,82,114],"13":[33,38,66,83],"6":[35],"translocation-trisomy":[37],"karyotypes.":[39],"the":[44,90,93,107],"19":[45,70],"who":[47],"died":[48],"was":[49,97],"97.05":[50],"days;":[51],"translocation":[52],"survived":[54],"longer":[55],"than":[56],"patients.":[59],"oldest":[61,108],"living":[62,110],"with":[64,112],"are":[67,78],"a":[68,72],"girl":[69],"boy":[73],"11":[74],"years":[75],"old.":[76],"Both":[77],"black,":[79],"karyotypes":[84],"most":[88],"manifestations":[91],"syndrome.":[94],"No":[95],"mosaicism":[96],"detected":[98],"repeated":[100],"cytogenetic":[101],"studies.":[102],"19-year-old":[104],"patient":[105],"known":[109],"person":[111],"13.":[115]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":4}],"updated_date":"2026-09-27T08:07:27.782135","created_date":"2025-10-10T00:00:00"}