{"id":"https://openalex.org/W2053853671","doi":"https://doi.org/10.1002/ajmg.a.10100","title":"A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15","display_name":"A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15","publication_year":2003,"publication_date":"2003-02-03","ids":{"openalex":"https://openalex.org/W2053853671","doi":"https://doi.org/10.1002/ajmg.a.10100","mag":"2053853671","pmid":"https://pubmed.ncbi.nlm.nih.gov/12599184"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.10100","doi":"https://doi.org/10.1002/ajmg.a.10100","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.10100","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","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/A5113679615","display_name":"Art Daniel","orcid":"https://orcid.org/0000-0002-6230-4531","observed_orcids":["https://orcid.org/0000-0002-6230-4531"]},"institutions":[{"id":"https://openalex.org/I2802384191","display_name":"Children's Hospital at Westmead","ror":"https://ror.org/05k0s5494","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2802384191"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Art Daniel","raw_affiliation_strings":["Department of Cytogenetics, The Children's Hospital at Westmead, Hawkesbury Road, Westmead, New South Wales 2145, Australia. artd@chw.edu.au","Department of Cytogenetics, The Children's Hospital at Westmead, New South Wales, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cytogenetics, The Children's Hospital at Westmead, Hawkesbury Road, Westmead, New South Wales 2145, Australia. artd@chw.edu.au","institution_ids":["https://openalex.org/I2802384191"]},{"raw_affiliation_string":"Department of Cytogenetics, The Children's Hospital at Westmead, New South Wales, Australia","institution_ids":["https://openalex.org/I2802384191"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030835079","display_name":"Paul Malafiej","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802384191","display_name":"Children's Hospital at Westmead","ror":"https://ror.org/05k0s5494","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2802384191"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Paul Malafiej","raw_affiliation_strings":["Department of Cytogenetics, The Children's Hospital at Westmead, New South Wales, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cytogenetics, The Children's Hospital at Westmead, New South Wales, Australia","institution_ids":["https://openalex.org/I2802384191"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5113679615"],"corresponding_institution_ids":["https://openalex.org/I2802384191"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":2.6138,"has_fulltext":false,"cited_by_count":111,"citation_normalized_percentile":{"value":0.89716912,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":100},"biblio":{"volume":"117A","issue":"3","first_page":"212","last_page":"222"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9965999722480774,"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":0.9965999722480774,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.0010000000474974513,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.0005000000237487257,"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/ring-chromosome-14","display_name":"ring chromosome 14","score":0.6539999842643738},{"id":"https://openalex.org/keywords/uniparental-disomy","display_name":"uniparental disomy","score":0.8339999914169312},{"id":"https://openalex.org/keywords/mosaicism","display_name":"mosaicism","score":0.8339999914169312},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.6769999861717224}],"concepts":[{"id":"https://openalex.org/C134925867","wikidata":"https://www.wikidata.org/wiki/Q186380","display_name":"Autosome","level":4,"score":0.8634363412857056},{"id":"https://openalex.org/C2781034694","wikidata":"https://www.wikidata.org/wiki/Q474261","display_name":"Ring chromosome","level":5,"score":0.7138030529022217},{"id":"https://openalex.org/C2780610479","wikidata":"https://www.wikidata.org/wiki/Q7644068","display_name":"Supernumerary","level":2,"score":0.6835793256759644},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.6330060362815857},{"id":"https://openalex.org/C2909208804","wikidata":"https://www.wikidata.org/wiki/Q127282","display_name":"Fish <Actinopterygii>","level":2,"score":0.6222670078277588},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5817278027534485},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5794398784637451},{"id":"https://openalex.org/C130773972","wikidata":"https://www.wikidata.org/wiki/Q904181","display_name":"Marker chromosome","level":5,"score":0.4783617854118347},{"id":"https://openalex.org/C4169854","wikidata":"https://www.wikidata.org/wiki/Q7543590","display_name":"Small supernumerary marker chromosome","level":5,"score":0.44591665267944336},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3379465341567993},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.3155682682991028},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.16954398155212402},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1292213797569275},{"id":"https://openalex.org/C505870484","wikidata":"https://www.wikidata.org/wiki/Q180538","display_name":"Fishery","level":1,"score":0.0777277946472168}],"mesh":[{"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":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002880","descriptor_name":"Chromosomes, Human, Pair 11","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002881","descriptor_name":"Chromosomes, Human, Pair 12","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002883","descriptor_name":"Chromosomes, Human, Pair 14","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","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":"D007223","descriptor_name":"Infant","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":"D012303","descriptor_name":"Ring Chromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015341","descriptor_name":"Nucleic Acid Probes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.10100","doi":"https://doi.org/10.1002/ajmg.a.10100","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.10100","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:12599184","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12599184","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. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":41,"referenced_works":["https://openalex.org/W1271056947","https://openalex.org/W1491031632","https://openalex.org/W1495912443","https://openalex.org/W1704952980","https://openalex.org/W1883004348","https://openalex.org/W1908688330","https://openalex.org/W1975833095","https://openalex.org/W1975941837","https://openalex.org/W1980343421","https://openalex.org/W1981943808","https://openalex.org/W1996902189","https://openalex.org/W1998331088","https://openalex.org/W1999039012","https://openalex.org/W2003304712","https://openalex.org/W2013215835","https://openalex.org/W2032172895","https://openalex.org/W2032497970","https://openalex.org/W2041201355","https://openalex.org/W2042860034","https://openalex.org/W2046362303","https://openalex.org/W2055047755","https://openalex.org/W2058881337","https://openalex.org/W2059367575","https://openalex.org/W2061233691","https://openalex.org/W2062470965","https://openalex.org/W2069026100","https://openalex.org/W2072314702","https://openalex.org/W2072885316","https://openalex.org/W2075934468","https://openalex.org/W2085794306","https://openalex.org/W2100237224","https://openalex.org/W2107649079","https://openalex.org/W2116055990","https://openalex.org/W2148029624","https://openalex.org/W2170578535","https://openalex.org/W2414803217","https://openalex.org/W2807979113","https://openalex.org/W4245008554","https://openalex.org/W4250623535","https://openalex.org/W4255991919","https://openalex.org/W4300094336"],"related_works":["https://openalex.org/W2055047755","https://openalex.org/W1704952980","https://openalex.org/W2032172895","https://openalex.org/W2029781051","https://openalex.org/W187009745","https://openalex.org/W2058881337","https://openalex.org/W1981833799","https://openalex.org/W1968257012","https://openalex.org/W2168237701","https://openalex.org/W2091585868"],"abstract_inverted_index":{"Seven":[0],"supernumerary":[1,105,151,274,358,394,433],"small":[2,26,106,152,209,253,275,296,378,395,410,434],"ring":[3,23,96,107,153,219],"marker":[4,292],"autosomes":[5,108],"were":[6,28,47,91,198,222,255,310],"studied.":[7],"The":[8,25,59,102,114,318,409,423],"pantelomere":[9],"probe":[10,35,315],"(Oncor)":[11],"in":[12,65,129,132,155,165,202,320,337,373,380,386],"conjunction":[13],"with":[14,33,157,232,312,376,383,388,431,444],"scoring":[15],"for":[16,79,247,393],"dicentric":[17],"rings":[18,27,46,81,164,260,359,396,411,435],"was":[19,68,77,98,109,120,135,183,326,342],"used":[20],"to":[21,137,161,193,217,290,353],"confirm":[22],"morphology.":[24],"identified":[29],"mainly":[30],"by":[31],"FISH":[32],"chromosome":[34,112,145,174],"arrays":[36],"(Cytocell)":[37],"containing":[38],"representations":[39],"from":[40,49,82,143,262,403],"all":[41,169],"24":[42],"chromosomes":[43,50,83,170],"and":[44,57,85,116,168,196,220,241,267,347,385],"the":[45,62,80,95,123,127,138,162,177,194,206,218,233,242,259,270,273,280,291,295,307,313,334,354,420],"derived":[48,261],"7,":[51],"8":[52,268],"(three":[53],"cases),":[54],"11,":[55],"12,":[56],"14.":[58],"effectiveness":[60],"of":[61,99,118,126,140,237,294,306,329,350,429,438],"array":[63],"methodology":[64],"identifying":[66],"markers":[67],"tested.":[69],"Microsatellite":[70],"DNA":[71],"data":[72,159,244,251,366],"showed":[73],"biparental":[74],"disomy":[75],"(BPD)":[76],"present":[78,308],"7":[84],"14":[86,97],"thereby":[87],"excluding":[88,111],"UPD,":[89],"both":[90],"de":[92],"novo":[93],"but":[94,293,367],"paternal":[100],"origin.":[101],"literature":[103],"on":[104],"reviewed":[110,278],"15.":[113],"grade":[115],"distribution":[117],"mosaicism":[119],"invoked":[121],"as":[122],"major":[124],"determinant":[125],"differences":[128,257],"phenotype":[130,191,215,288,372],"and,":[131],"addition,":[133],"variation":[134],"attributed":[136],"possibility":[139],"different":[141,263,439],"contributions":[142],"each":[144],"arm.":[146],"There":[147],"are":[148,245,252],"88":[149],"published":[150],"cases":[154,167,201,277,375,382,430],"total,":[156],"phenotypic":[158,185],"attributable":[160,192,216,289],"respective":[163],"77":[166],"being":[171],"represented":[172],"except":[173],"17.":[175],"Of":[176,205,272],"prenatally":[178],"ascertained":[179,208],"cases,":[180,298],"where":[181],"there":[182,197,221,254,362,368],"adequate":[184],"data,":[186],"30%":[187],"had":[188,212,285,301,348],"an":[189,213,286,302,330,370],"abnormal":[190,214,287,303,371],"ring,":[195],"44%":[199],"familial":[200,224],"this":[203,238,445],"group.":[204],"postnatally":[207,360],"rings,":[210,379],"75%":[211],"13%":[223],"cases.":[225],"This":[226],"higher":[227],"abnormality":[228],"rate":[229],"is":[230,363,369,397,442],"concordant":[231],"considerable":[234],"ascertainment":[235],"bias":[236],"latter":[239],"group":[240],"prenatal":[243],"recommended":[246],"genetic":[248],"counseling.":[249],"Although":[250],"some":[256],"between":[258],"chromosomes.":[264],"Chromosomes":[265],"3":[266,339],"demonstrate":[269],"extremes.":[271],"r(8)":[276,309,319,336],"including":[279],"three":[281],"presently":[282],"described,":[283],"8/11":[284,374],"r(3)":[297],"only":[299],"1/6":[300],"phenotype.":[304],"Two":[305],"studied":[311],"GATA4":[314],"at":[316],"8p23.1.":[317],"case":[321,338],"2":[322],"(patient":[323],"moderately":[324],"retarded)":[325],"comprised":[327],"mostly":[328,364],"intact":[331],"8p":[332],"whereas":[333],"larger":[335],"(normal":[340],"phenotype)":[341],"missing":[343],"8p23.1":[344],"-->":[345],"pter":[346],"more":[349],"8q":[351],"contributing":[352],"ring.":[355],"In":[356],"other":[357],"ascertained,":[361],"insufficient":[365],"multiple":[377,432],"5/6":[381],"r(20),":[384],"5/10":[387],"r(1).":[389],"A":[390],"novel":[391],"origin":[392,441],"proposed:":[398],"that":[399],"they":[400],"may":[401,415],"originate":[402],"incompletely":[404],"digested":[405],"superfluous":[406],"(haploid)":[407],"pronuclei.":[408],"presumptively":[412],"so":[413],"formed":[414],"occasionally":[416],"be":[417],"transfected":[418],"into":[419],"zygote":[421],"nucleus.":[422],"high":[424],"proportion":[425],"(":[426],"approximately":[427],"12.5%)":[428],"almost":[436],"always":[437],"centromeric":[440],"consistent":[443],"concept.":[446]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2018,"cited_by_count":32},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
