{"id":"https://openalex.org/W1572648464","doi":"https://doi.org/10.1159/000130815","title":"A culture with a derivative chromosome 10 from a paternal (10;Rodriguez16) translocation","display_name":"A culture with a derivative chromosome 10 from a paternal (10;Rodriguez16) translocation","publication_year":2008,"publication_date":"2008-05-06","ids":{"openalex":"https://openalex.org/W1572648464","doi":"https://doi.org/10.1159/000130815","mag":"1572648464","pmid":"https://pubmed.ncbi.nlm.nih.gov/598254"},"language":"en","primary_location":{"id":"doi:10.1159/000130815","doi":"https://doi.org/10.1159/000130815","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000130815","pdf_url":null,"source":{"id":"https://openalex.org/S4210179014","display_name":"Cytogenetics and Cell Genetics","issn_l":"0301-0171","issn":["0301-0171","1421-9816"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["norway-1"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cytogenetics and Cell 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/A5023255205","display_name":"Beverly S. Emanuel","orcid":"https://orcid.org/0000-0002-9207-6955","observed_orcids":["https://orcid.org/0000-0002-9207-6955"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"B. Emanuel","raw_affiliation_strings":["Department of Human Genetics, University of Pennsylvania Medical School, Philadelphia, Pa., and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Pennsylvania Medical School, Philadelphia, Pa., and","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008262289","display_name":"Elaine H. Zackai","orcid":"https://orcid.org/0000-0002-8002-893X","observed_orcids":["https://orcid.org/0000-0002-8002-893X"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E.H. Zackai","raw_affiliation_strings":["Department of Human Genetics, University of Pennsylvania Medical School, Philadelphia, Pa., and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Pennsylvania Medical School, Philadelphia, Pa., and","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113599066","display_name":"William J. Mellman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W.J. Mellman","raw_affiliation_strings":["Department of Human Genetics, University of Pennsylvania Medical School, Philadelphia, Pa., and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Pennsylvania Medical School, Philadelphia, Pa., and","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007718056","display_name":"M.M. Aronson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801875870","display_name":"Coriell Institute For Medical Research","ror":"https://ror.org/04npwsp41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2801875870"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M.M. Aronson","raw_affiliation_strings":["Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J","institution_ids":["https://openalex.org/I2801875870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110480756","display_name":"A.E. Greene","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801875870","display_name":"Coriell Institute For Medical Research","ror":"https://ror.org/04npwsp41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2801875870"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A.E. Greene","raw_affiliation_strings":["Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J","institution_ids":["https://openalex.org/I2801875870"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046631198","display_name":"L.L. Coriell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801875870","display_name":"Coriell Institute For Medical Research","ror":"https://ror.org/04npwsp41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I2801875870"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L.L. Coriell","raw_affiliation_strings":["Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetic Mutant Cell Repository, Institute for Medical Research, Camden, N.J","institution_ids":["https://openalex.org/I2801875870"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.08002262,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"19","issue":"4","first_page":"240","last_page":"240"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9955999851226807,"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":0.9955999851226807,"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":0.0006000000284984708,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.0003000000142492354,"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/chromosome-10","display_name":"chromosome 10","score":0.5830000042915344},{"id":"https://openalex.org/keywords/chromosome-16","display_name":"chromosome 16","score":0.6240000128746033},{"id":"https://openalex.org/keywords/robertsonian-translocation","display_name":"Robertsonian translocation","score":0.6869999766349792},{"id":"https://openalex.org/keywords/paternal-translocation","display_name":"paternal translocation","score":0.6069999933242798},{"id":"https://openalex.org/keywords/cell-culture","display_name":"cell culture","score":0.47999998927116394},{"id":"https://openalex.org/keywords/mutant-cell-lines","display_name":"mutant cell lines","score":0.6589999794960022},{"id":"https://openalex.org/keywords/human-chromosome-abnormalities","display_name":"human chromosome abnormalities","score":0.43700000643730164},{"id":"https://openalex.org/keywords/cytogenetics","display_name":"cytogenetics","score":0.5130000114440918},{"id":"https://openalex.org/keywords/cell-genetics","display_name":"cell genetics","score":0.7160000205039978},{"id":"https://openalex.org/keywords/karyotype","display_name":"karyotype","score":0.42800000309944153},{"id":"https://openalex.org/keywords/translocation-carriers","display_name":"translocation carriers","score":0.32199999690055847}],"concepts":[{"id":"https://openalex.org/C2778447006","wikidata":"https://www.wikidata.org/wiki/Q1156474","display_name":"Icon","level":2,"score":0.6560043096542358},{"id":"https://openalex.org/C161191863","wikidata":"https://www.wikidata.org/wiki/Q199655","display_name":"Library science","level":1,"score":0.4458695352077484},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3932746648788452},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.27388858795166016},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.22129693627357483},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002902","descriptor_name":"Chromosomes, Human, 16-18","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002906","descriptor_name":"Chromosomes, Human, 6-12 and X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","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":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1159/000130815","doi":"https://doi.org/10.1159/000130815","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000130815","pdf_url":null,"source":{"id":"https://openalex.org/S4210179014","display_name":"Cytogenetics and Cell Genetics","issn_l":"0301-0171","issn":["0301-0171","1421-9816"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["norway-1"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cytogenetics and Cell Genetics","raw_type":"journal-article"},{"id":"pmid:598254","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/598254","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":"Cytogenetics and cell genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.4000000059604645}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1987308224","https://openalex.org/W2001519223","https://openalex.org/W2048765761","https://openalex.org/W2038950503","https://openalex.org/W1977401729","https://openalex.org/W2061964412","https://openalex.org/W2616123160","https://openalex.org/W2140843140","https://openalex.org/W2048886404","https://openalex.org/W2006494496"],"abstract_inverted_index":{"Case":[0],"Reports|":[1],"May":[2,208],"06":[3,209],"2008":[4,210],"A":[5,257],"culture":[6,258],"with":[7,259,414],"a":[8,13,260,265,481,525],"derivative":[9,261],"chromosome":[10,262],"10":[11,263],"from":[12,264,386,558],"paternal":[14,266],"(10;Rodriguez16)":[15,267],"translocation:":[16,268],"Repository":[17,269],"identification":[18,270],"No.":[19,271],"GM-1396":[20],"Subject":[21],"Area:":[22],"Genetics":[23,198,276],"B.":[24,26,245],"Emanuel;":[25],"Emanuel":[27],"aDepartment":[28,57,86],"of":[29,33,58,62,87,91,348,422,427,438,499,507,515,530,537],"Human":[30,59,88],"Genetics,":[31,60,89],"University":[32,61,90],"Pennsylvania":[34,63,92],"Medical":[35,64,93,122,150,178],"School,":[36,65,94],"Philadelphia,":[37,66,95],"Pa.,":[38,67,96],"and":[39,68,97,196,274,317,379,392,404,417,434,444,464,466,470,490,503,505,510,545],"Search":[40,69,98,126,154,182,242,300,307,320,322],"for":[41,70,99,121,127,149,155,177,183,456,459,467,550],"other":[42,71,100,128,156,184,355],"works":[43,72,101,129,157,185],"by":[44,73,102,130,158,186,364,375],"this":[45,74,103,131,159,187,349,409,494,579],"author":[46,75,104,132,160,188],"on:":[47,76,105,133,161,189],"This":[48,77,106,134,162,190,330,472],"Site":[49,78,107,135,163,191,243],"PubMed":[50,79,108,136,164,192],"Google":[51,80,109,137,165,193],"Scholar":[52,81,110,138,166,194],"E.H.":[53,55,247],"Zackai;":[54],"Zackai":[56],"W.J.":[82,84,249],"Mellman;":[83],"Mellman":[85],"M.M.":[111,113,251],"Aronson;":[112],"Aronson":[114],"bHuman":[115,143,171],"Genetic":[116,144,172],"Mutant":[117,145,173],"Cell":[118,146,174,197,275],"Repository,":[119,147,175],"Institute":[120,148,176],"Research,":[123,151,179],"Camden,":[124,152,180],"N.J.":[125,153,181],"A.E.":[139,141,253],"Greene;":[140],"Greene":[142],"L.L.":[167,169,255],"Coriell":[168,170],"Cytogenetics":[195,273],"(1977)":[199],"19":[200,280],"(4):":[201,281],"240.":[202,282],"https://doi.org/10.1159/000130815":[203,283],"Article":[204,216,323],"history":[205],"Published":[206],"Online:":[207],"Content":[211],"Tools":[212,234,236],"Views":[213,215],"Icon":[214,228,235,240],"contents":[217],"Figures":[218],"&":[219],"tables":[220],"Video":[221],"Audio":[222],"Supplementary":[223],"Data":[224],"Peer":[225],"Review":[226],"Share":[227,229],"Facebook":[230],"Twitter":[231],"LinkedIn":[232],"Email":[233],"Get":[237],"Permissions":[238],"Cite":[239,241],"Citation":[244],"Emanuel,":[246],"Zackai,":[248],"Mellman,":[250],"Aronson,":[252],"Greene,":[254],"Coriell;":[256],"GM-1396.":[272],"1":[277],"April":[278],"1977;":[279],"Download":[284],"citation":[285],"file:":[286],"Ris":[287],"(Zotero)":[288],"Reference":[289],"Manager":[290],"EasyBib":[291],"Bookends":[292],"Mendeley":[293],"Papers":[294],"EndNote":[295],"RefWorks":[296],"BibTex":[297],"toolbar":[298,303],"search":[299,304,305,313],"Dropdown":[301],"Menu":[302],"input":[306,308],"auto":[309],"suggest":[310],"filter":[311],"your":[312],"All":[314,343],"ContentAll":[315],"JournalsCytogenetic":[316],"Genome":[318],"Research":[319],"Advanced":[321],"PDF":[324],"first":[325],"page":[326],"preview":[327],"Close":[328],"Modal":[329],"content":[331,569],"is":[332,449,473,480,523],"only":[333],"available":[334],"via":[335],"PDF.":[336],"1977Copyright":[337],"/":[338,341],"Drug":[339],"Dosage":[340],"DisclaimerCopyright:":[342],"rights":[344],"reserved.":[345],"No":[346],"part":[347],"publication":[350,495,522],"may":[351],"be":[352],"translated":[353],"into":[354],"languages,":[356],"reproduced":[357],"or":[358,363,368,374,528,533,536,541,555,563,570],"utilized":[359],"in":[360,384,408,412,425,431,462,493,520,567],"any":[361,365,376,460,551,559],"form":[362],"means,":[366],"electronic":[367],"mechanical,":[369],"including":[370],"photocopying,":[371],"recording,":[372],"microcopying,":[373],"information":[377,439],"storage":[378],"retrieval":[380],"system,":[381],"without":[382],"permission":[383],"writing":[385],"the":[387,393,420,435,447,453,477,500,508,511,521,531,546,568],"publisher.Drug":[388],"Dosage:":[389],"The":[390,487,513,543],"authors":[391,502],"publisher":[394,544],"have":[395,576],"exerted":[396],"every":[397],"effort":[398],"to":[399,441,451,553,566,578],"ensure":[400],"that":[401],"drug":[402,442,445,458],"selection":[403],"dosage":[405,465],"set":[406],"forth":[407],"text":[410],"are":[411,496],"accord":[413],"current":[415],"recommendations":[416],"practice":[418],"at":[419],"time":[421],"publication.":[423],"However,":[424],"view":[426],"ongoing":[428],"research,":[429],"changes":[430,461],"government":[432],"regulations,":[433],"constant":[436],"flow":[437],"relating":[440],"therapy":[443],"reactions,":[446],"reader":[448],"urged":[450],"check":[452],"package":[454],"insert":[455],"each":[457],"indications":[463],"added":[468],"warnings":[469],"precautions.":[471],"particularly":[474],"important":[475],"when":[476],"recommended":[478],"agent":[479],"new":[482],"and/or":[483],"infrequently":[484],"employed":[485],"drug.Disclaimer:":[486],"statements,":[488],"opinions":[489],"data":[491],"contained":[492],"solely":[497],"those":[498],"individual":[501],"contributors":[504],"not":[506,524,574],"publishers":[509],"editor(s).":[512],"appearance":[514],"advertisements":[516],"or/and":[517],"product":[518],"references":[519],"warranty,":[526],"endorsement,":[527],"approval":[529],"products":[532,564],"services":[534],"advertised":[535],"their":[538],"effectiveness,":[539],"quality":[540],"safety.":[542],"editor(s)":[547],"disclaim":[548],"responsibility":[549],"injury":[552],"persons":[554],"property":[556],"resulting":[557],"ideas,":[560],"methods,":[561],"instructions":[562],"referred":[565],"advertisements.":[571],"You":[572],"do":[573],"currently":[575],"access":[577],"content.":[580]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}