{"id":"https://openalex.org/W41713199","doi":null,"title":"Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16.","display_name":"Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16.","publication_year":2009,"publication_date":"2009-01-01","ids":{"openalex":"https://openalex.org/W41713199","mag":"41713199","pmid":"https://pubmed.ncbi.nlm.nih.gov/20162867"},"language":"en","primary_location":{"id":"pmid:20162867","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20162867","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"},"parent_works":[],"lineage":["https://openalex.org/W41713199"],"child_works_count":0,"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/A5081092338","display_name":"Sezin Yakut","orcid":"https://orcid.org/0000-0002-9540-5099","observed_orcids":["https://orcid.org/0000-0002-9540-5099"]},"institutions":[{"id":"https://openalex.org/I197907453","display_name":"Akdeniz University","ror":"https://ror.org/01m59r132","country_code":"TR","type":"education","lineage":["https://openalex.org/I197907453"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"S Yakut","raw_affiliation_strings":["Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, Turkey. sezinyakut@yahoo.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, Turkey. sezinyakut@yahoo.com","institution_ids":["https://openalex.org/I197907453"]}]},{"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/A5101467867","display_name":"Mehmet \u015eim\u015fek","orcid":"https://orcid.org/0000-0001-9903-5307","observed_orcids":["https://orcid.org/0000-0001-9903-5307"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Sim\u015fek","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111784914","display_name":"S B Kara\u00fcz\u00fcm","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S B Kara\u00fcz\u00fcm","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055154636","display_name":"Ajlan T\u00fck\u00fcn","orcid":"https://orcid.org/0000-0001-7445-0918","observed_orcids":["https://orcid.org/0000-0001-7445-0918"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A T\u00fck\u00fcn","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5019676028","display_name":"G\u00fcven L\u00fcleci","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G L\u00fcleci","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6111,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.71295244,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"20","issue":"4","first_page":"327","last_page":"32"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9340999722480774,"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"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9340999722480774,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.06120000034570694,"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":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/de-novo-marker-chromosome","display_name":"de novo marker chromosome","score":0.7760000228881836},{"id":"https://openalex.org/keywords/chromosome-16","display_name":"chromosome 16","score":0.8759999871253967},{"id":"https://openalex.org/keywords/supernumerary-marker-chromosome","display_name":"supernumerary marker chromosome","score":0.7919999957084656},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.8939999938011169},{"id":"https://openalex.org/keywords/amniocentesis","display_name":"amniocentesis","score":0.890999972820282},{"id":"https://openalex.org/keywords/advanced-maternal-age","display_name":"advanced maternal age","score":0.6309999823570251},{"id":"https://openalex.org/keywords/heterochromatin","display_name":"heterochromatin","score":0.6340000033378601},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.5509999990463257}],"concepts":[{"id":"https://openalex.org/C130773972","wikidata":"https://www.wikidata.org/wiki/Q904181","display_name":"Marker chromosome","level":5,"score":0.8270722031593323},{"id":"https://openalex.org/C4169854","wikidata":"https://www.wikidata.org/wiki/Q7543590","display_name":"Small supernumerary marker chromosome","level":5,"score":0.7362198829650879},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.5919457674026489},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.5681972503662109},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5629274845123291},{"id":"https://openalex.org/C2780610479","wikidata":"https://www.wikidata.org/wiki/Q7644068","display_name":"Supernumerary","level":2,"score":0.5613709688186646},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.5484720468521118},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5271434783935547},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5120373368263245},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.34488222002983093},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.32979443669319153},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.13924279808998108},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10267624258995056}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000649","descriptor_name":"Amniocentesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002885","descriptor_name":"Chromosomes, Human, Pair 16","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D032681","descriptor_name":"Spectral Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055028","descriptor_name":"Comparative Genomic Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":1,"locations":[{"id":"pmid:20162867","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20162867","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"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"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":11,"referenced_works":["https://openalex.org/W170031742","https://openalex.org/W1988964290","https://openalex.org/W2003304712","https://openalex.org/W2033496575","https://openalex.org/W2069212127","https://openalex.org/W2074903812","https://openalex.org/W2087749060","https://openalex.org/W2093214785","https://openalex.org/W2098399933","https://openalex.org/W2149316006","https://openalex.org/W2150750931"],"related_works":["https://openalex.org/W1988964290","https://openalex.org/W2299591915","https://openalex.org/W139984705","https://openalex.org/W2560824863","https://openalex.org/W1979250445","https://openalex.org/W2032953695","https://openalex.org/W2056344442","https://openalex.org/W2043409896","https://openalex.org/W2030286194","https://openalex.org/W2069026100"],"abstract_inverted_index":{"Prenatal":[0],"diagnosis":[1],"of":[2,26,47,125,135],"a":[3,45],"de":[4],"novo":[5],"supernumerary":[6],"marker":[7,40,57],"chromosome":[8,11,41,58,65],"originating":[9],"from":[10,64,94],"16:":[12],"A":[13,37],"37":[14],"year":[15],"old":[16],"pregnant":[17],"woman":[18],"was":[19,42,59,104,120],"referred":[20],"for":[21],"amniocentesis":[22],"at":[23,122,132],"18":[24],"weeks":[25,124],"gestation":[27,126],"due":[28],"to":[29,61,106,112,116],"advanced":[30],"maternal":[31],"age":[32,136],"and":[33,71,108],"abnormal":[34],"serum":[35],"biochemistry.":[36],"nonsatellited,":[38],"monocentric":[39],"observed":[43],"with":[44,79],"frequency":[46],"57%":[48],"in":[49],"cultured":[50],"amniocytes.":[51],"Parental":[52],"karyotypes":[53],"were":[54,76],"normal.":[55],"The":[56,118],"found":[60],"be":[62],"derived":[63],"16":[66],"by":[67],"FISH":[68],"using":[69,90],"CEP16":[70],"WCP16":[72],"probes.":[73],"Marker":[74],"chromosomes":[75],"not":[77],"painted":[78],"M-FISH":[80,100],"probe":[81],"mixture,":[82],"indicating":[83],"an":[84],"exclusively":[85],"heterochromatin":[86],"nature.":[87],"CGH":[88],"analysis":[89],"genomic":[91],"DNA":[92],"isolated":[93],"uncultured":[95],"amniocytes":[96],"also":[97],"supported":[98],"the":[99,109,114],"results.":[101],"Genetic":[102],"counseling":[103],"given":[105],"parents":[107],"family":[110],"decided":[111],"continue":[113],"pregnancy":[115],"term.":[117],"baby":[119],"born":[121],"36":[123],"without":[127],"any":[128],"dysmorphic":[129],"features.":[130],"Follow-up":[131],"7":[133],"months":[134],"revealed":[137],"no":[138],"developmental":[139],"abnormalities.":[140]},"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
