{"id":"https://openalex.org/W1996902189","doi":"https://doi.org/10.1002/ajmg.1320530103","title":"Identification of marker chromosomes in thirteen patients using FISH probing","display_name":"Identification of marker chromosomes in thirteen patients using FISH probing","publication_year":1994,"publication_date":"1994-10-15","ids":{"openalex":"https://openalex.org/W1996902189","doi":"https://doi.org/10.1002/ajmg.1320530103","mag":"1996902189","pmid":"https://pubmed.ncbi.nlm.nih.gov/7802042"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.1320530103","doi":"https://doi.org/10.1002/ajmg.1320530103","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320530103","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","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":[],"countries":[],"is_corresponding":true,"raw_author_name":"Art Daniel","raw_affiliation_strings":["Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Sydney, Australia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030835079","display_name":"Paul Malafiej","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Paul Malafiej","raw_affiliation_strings":["Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Sydney, Australia","institution_ids":["https://openalex.org/I2803024705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072447962","display_name":"Kerrie Preece","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Kerrie Preece","raw_affiliation_strings":["Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Sydney, Australia","institution_ids":["https://openalex.org/I2803024705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044735084","display_name":"Nicole Chia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Nicole Chia","raw_affiliation_strings":["Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Sydney, Australia","institution_ids":["https://openalex.org/I2803024705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073911706","display_name":"John W. Nelson","orcid":"https://orcid.org/0000-0003-4134-3803","observed_orcids":["https://orcid.org/0000-0003-4134-3803"]},"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"]},{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"John Nelson","raw_affiliation_strings":["Clinical Genetics Unit, Department of Paediatrics, Westmead Hospital, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Unit, Department of Paediatrics, Westmead Hospital, Sydney, Australia","institution_ids":["https://openalex.org/I2802384191","https://openalex.org/I2803024705"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103394576","display_name":"M.F. Smith","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"]},{"id":"https://openalex.org/I2803024705","display_name":"Westmead Hospital","ror":"https://ror.org/04gp5yv64","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2803024705","https://openalex.org/I4405259172"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Meryl Smith","raw_affiliation_strings":["Clinical Genetics Unit, Department of Paediatrics, Westmead Hospital, Sydney, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Unit, Department of Paediatrics, Westmead Hospital, Sydney, Australia","institution_ids":["https://openalex.org/I2802384191","https://openalex.org/I2803024705"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5113679615"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.7124,"has_fulltext":false,"cited_by_count":45,"citation_normalized_percentile":{"value":0.83585047,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"53","issue":"1","first_page":"8","last_page":"18"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9961000084877014,"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":0.9961000084877014,"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":0.0010000000474974513,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/marker-chromosomes","display_name":"marker chromosomes","score":0.968999981880188},{"id":"https://openalex.org/keywords/cyclization","display_name":"cyclization","score":0.3190000057220459},{"id":"https://openalex.org/keywords/ring-chromosome-20","display_name":"ring chromosome 20","score":0.9980000257492065},{"id":"https://openalex.org/keywords/fluorescence-in-situ-hybridization","display_name":"fluorescence in situ hybridization","score":0.6570000052452087}],"concepts":[{"id":"https://openalex.org/C2909208804","wikidata":"https://www.wikidata.org/wiki/Q127282","display_name":"Fish <Actinopterygii>","level":2,"score":0.7355273962020874},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.684133768081665},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5992943644523621},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5534135699272156},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.4705154001712799},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.39527279138565063},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1618238091468811},{"id":"https://openalex.org/C505870484","wikidata":"https://www.wikidata.org/wiki/Q180538","display_name":"Fishery","level":1,"score":0.11237785220146179},{"id":"https://openalex.org/C18903297","wikidata":"https://www.wikidata.org/wiki/Q7150","display_name":"Ecology","level":1,"score":0.06345638632774353}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D000782","descriptor_name":"Aneuploidy","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":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004214","descriptor_name":"Distamycins","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":"D005819","descriptor_name":"Genetic Markers","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","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":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.1320530103","doi":"https://doi.org/10.1002/ajmg.1320530103","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320530103","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:7802042","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7802042","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":0.504800021648407,"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1237800473","https://openalex.org/W1271056947","https://openalex.org/W1581187016","https://openalex.org/W1704952980","https://openalex.org/W1976981699","https://openalex.org/W1998331088","https://openalex.org/W2013215835","https://openalex.org/W2036800615","https://openalex.org/W2041466549","https://openalex.org/W2058556317","https://openalex.org/W2065192391","https://openalex.org/W2093564946","https://openalex.org/W2100237224","https://openalex.org/W2886694889"],"related_works":["https://openalex.org/W1271056947","https://openalex.org/W2013215835","https://openalex.org/W2410403598","https://openalex.org/W2044552328","https://openalex.org/W1998331088","https://openalex.org/W2754771316","https://openalex.org/W1704952980","https://openalex.org/W1977157496","https://openalex.org/W7100083660","https://openalex.org/W2415936810"],"abstract_inverted_index":{"Fourteen":[0],"marker":[1,52,92,108,208],"chromosomes":[2,46,70],"were":[3,19,95,234,248,254,265,293,310,323],"studied":[4],"by":[5,280],"FISH":[6,204],"(fluorescence":[7],"in-situ":[8],"hybridization)":[9],"in":[10,40,85,93,114,165,172,217,304,338],"cytogenetic":[11],"preparations":[12],"from":[13,45,69,351],"13":[14,71],"patients.":[15],"The":[16,236],"derived":[17,44,350],"markers":[18,39,84,149,202,246,335,348],"identified":[20],"as":[21,250],"one":[22,26,30,34,66,86,143],"isodicentric":[23],"bisatellited":[24,62],"mar(22),":[25],"fragment":[27,31,80,230],"sized":[28,32,81,231],"r(X),":[29],"r(Y),":[33],"i(18p),":[35],"small":[36,82,90,106,147,200,232,244,261,291,321,333],"autosomal":[37],"ring":[38,83,91,107,148,201,245,334,365],"three":[41,197,266],"different":[42,100,352,370],"patients":[43,316,331],"2,":[47],"8,":[48,50],"and":[49,56,60,77,88,125,178,222,275,297,360,375],"a":[51,89,115,356],"comprised":[53],"of":[54,58,67,129,135,160,192,198,220,228,259,283,380,383,385,388],"9p":[55],"part":[57],"9qh,":[59],"3":[61],"apparently":[63],"monocentric":[64],"markers;":[65],"each":[68],"or":[72,75,154],"21,":[73],"14":[74],"22,":[76],"15.":[78],"Two":[79],"patient":[87],"another":[94],"negative":[96,121,130,243],"with":[97,117,122,132,289,320,332,346],"all":[98],"twenty-two":[99],"probes":[101,138,186],"used.":[102],"In":[103,196],"addition,":[104],"the":[105,133,156,161,166,173,183,190,193,199,203,207,214,229,281,364,381],"Y":[109],"chromosome":[110,168,174,285],"that":[111,226,247,363],"was":[112,120,209,238,300],"found":[113],"boy":[116],"karyotype":[118],"46,X,-Y,+mar":[119],"both":[123],"pDXZ1":[124],"pDYZ3.":[126],"This":[127,354],"anomaly":[128],"results":[131],"battery":[134],"centromeric":[136],"alphoid":[137,176],"can":[139],"be":[140,170,373,377],"explained":[141],"if":[142],"breakpoint":[144],"for":[145,240],"some":[146,159,227],"is":[150,355],"very":[151,357],"near":[152],"to":[153,182],"within":[155],"centromere.":[157],"Only":[158],"pericentromeric":[162],"repetitive":[163],"sequences":[164],"normal":[167,215],"would":[169,361],"represented":[171],"specific":[175],"probes,":[177],"presumably":[179],"those":[180],"corresponding":[181],"currently":[184],"available":[185],"are":[187,342],"truncated":[188],"during":[189],"formation":[191,366],"unidentified":[194],"markers.":[195,389],"signal":[205],"on":[206,213],"much":[210],"stronger":[211],"than":[212],"homologues":[216],"various":[218],"proportions":[219],"cells,":[221],"this":[223,386],"may":[224],"indicate":[225],"rings":[233,262,292,322],"multicentric.":[235],"literature":[237],"reviewed":[239],"Distamycin":[241],"A/DAPI":[242],"present":[249],"extra":[251],"chromosomes.":[252,353],"There":[253],"only":[255],"single":[256],"published":[257],"cases":[258,288],"most":[260],"but":[263,303],"there":[264,341],"r(8)":[267],"cases,":[268,271,274,278],"two":[269,272,276],"r(1)":[270],"r(12)":[273],"r(20)":[277],"uncomplicated":[279],"presence":[282],"other":[284],"abnormalities.":[286],"Most":[287],"similar":[290],"quite":[294],"dissimilar":[295],"phenotypically":[296,313],"syndrome":[298],"identification":[299],"not":[301],"possible,":[302],"pooled":[305,339],"data,":[306],"18/23":[307],"(about":[308,344],"80%)":[309],"developmentally":[311],"and/or":[312],"abnormal.":[314],"Some":[315],"(5/23,":[317],"about":[318],"20%)":[319,345],"dysmorphic":[324],"without":[325],"intellectual":[326],"handicap.":[327],"Of":[328],"28":[329],"such":[330],"(Distamycin/Dapi":[336],"negative)":[337],"data":[340],"6":[343],"multiple":[347],"mostly":[349],"high":[358],"figure":[359],"suggest":[362],"events,":[367],"although":[368],"involving":[369],"chromosomes,":[371],"must":[372,376],"related":[374],"an":[378],"indicator":[379],"mechanism":[382],"origin":[384],"group":[387]},"counts_by_year":[{"year":2017,"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"}