{"id":"https://openalex.org/W2604119611","doi":null,"title":"The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p.","display_name":"The clinical spectrum of a rare chromosomal abnormality: Isochromosome 18p.","publication_year":2016,"publication_date":"2016-01-01","ids":{"openalex":"https://openalex.org/W2604119611","mag":"2604119611","pmid":"https://pubmed.ncbi.nlm.nih.gov/29485826"},"language":"en","primary_location":{"id":"pmid:29485826","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29485826","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":"Genetic counseling (Geneva, Switzerland)","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5055294401","display_name":"Banu Guzel Nur","orcid":"https://orcid.org/0000-0002-3463-5763","observed_orcids":["https://orcid.org/0000-0002-3463-5763"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B G Nur","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010705945","display_name":"\u00d6zden Alt\u0131ok Clark","orcid":"https://orcid.org/0000-0002-8449-4620","observed_orcids":["https://orcid.org/0000-0002-8449-4620"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"O A Clark","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062839237","display_name":"Zafer \u00c7etin","orcid":"https://orcid.org/0000-0003-0125-235X","observed_orcids":["https://orcid.org/0000-0003-0125-235X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Z Cetin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043849179","display_name":"Asl\u0131 Toylu","orcid":"https://orcid.org/0000-0002-5531-6825","observed_orcids":["https://orcid.org/0000-0002-5531-6825"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Toylu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040019623","display_name":"Sibel Berker Kara\u00fcz\u00fcm","orcid":"https://orcid.org/0000-0001-6415-3215","observed_orcids":["https://orcid.org/0000-0001-6415-3215"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S B Karauzum","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"E Mihci","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Mihci","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"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":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":"27","issue":"2","first_page":"223","last_page":"31"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9990000128746033,"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":0.9990000128746033,"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":0.00019999999494757503,"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.8790000081062317},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"clinical phenotype","score":0.6660000085830688},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.8220000267028809},{"id":"https://openalex.org/keywords/de-novo-chromosomal-rearrangement","display_name":"de novo chromosomal rearrangement","score":0.7120000123977661},{"id":"https://openalex.org/keywords/case-series","display_name":"case series","score":0.5410000085830688},{"id":"https://openalex.org/keywords/karyology","display_name":"karyology","score":0.7260000109672546},{"id":"https://openalex.org/keywords/fluorescence-in-situ-hybridization","display_name":"fluorescence in situ hybridization","score":0.9980000257492065}],"concepts":[{"id":"https://openalex.org/C57269778","wikidata":"https://www.wikidata.org/wiki/Q900950","display_name":"Isochromosome","level":5,"score":0.9827488660812378},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.62108314037323},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5960444211959839},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.5217986106872559},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5121278762817383},{"id":"https://openalex.org/C2908755955","wikidata":"https://www.wikidata.org/wiki/Q744962","display_name":"Chromosomal Abnormality","level":5,"score":0.5105124711990356},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.48457157611846924},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.463739275932312},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.45844224095344543},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2657397985458374},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2379852533340454},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07543537020683289},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000782","descriptor_name":"Aneuploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D002887","descriptor_name":"Chromosomes, Human, Pair 18","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":"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":"D018404","descriptor_name":"Isochromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:29485826","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29485826","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":"Genetic counseling (Geneva, Switzerland)","raw_type":"Case Reports"},{"id":"mag:2604119611","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29485826","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2759522","https://openalex.org/W1530318287","https://openalex.org/W1968097644","https://openalex.org/W2238378095","https://openalex.org/W2130724792","https://openalex.org/W2005369513","https://openalex.org/W2047549652","https://openalex.org/W3186591035","https://openalex.org/W2165435801","https://openalex.org/W2270731519"],"abstract_inverted_index":{"Isochromosome":[0,53,70],"18p":[1],"is":[2],"a":[3,10,29,40],"rare":[4],"chromosomal":[5],"disorder":[6],"that":[7,45,62],"occurs":[8],"with":[9],"frequency":[11],"of":[12,43,52,69,91,97],"approximately":[13],"one":[14],"in":[15,82,94,102],"every":[16],"180,000":[17],"live":[18],"births,":[19],"and":[20,49,66,72,80],"affects":[21],"both":[22],"genders":[23],"equally.":[24],"MOst":[25],"cases":[26,61,99],"result":[27],"from":[28],"de":[30],"novo":[31],"formation.":[32],"In":[33,55],"the":[34,47,64,88,95,98,103],"literature,":[35],"there":[36],"are":[37],"currently":[38],"only":[39],"small":[41],"number":[42],"reports":[44],"describe":[46],"phenotypic":[48,65],"clinical":[50,67,89],"features":[51,68,90],"18p.":[54],"this":[56],"article,":[57],"we":[58],"report":[59],"six":[60],"displayed":[63],"18p,":[71],"which":[73],"were":[74],"subsequently":[75],"confirmed":[76],"by":[77],"conventional":[78],"karyotyping":[79],"fluorescence":[81],"situ":[83],"hybridization.":[84],"We":[85],"also":[86],"discuss":[87],"these":[92],"patients":[93],"context":[96],"previously":[100],"reported":[101],"literature.":[104]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-04-14T00:00:00"}
