{"id":"https://openalex.org/W1997240844","doi":"https://doi.org/10.5146/tjpath.2014.01280","title":"Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases","display_name":"Rare structural chromosomal abnormalities in prenatal diagnosis; clinical and cytogenetic findings on 10125 prenatal cases","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W1997240844","doi":"https://doi.org/10.5146/tjpath.2014.01280","mag":"1997240844","pmid":"https://pubmed.ncbi.nlm.nih.gov/25301051"},"language":"en","primary_location":{"id":"doi:10.5146/tjpath.2014.01280","doi":"https://doi.org/10.5146/tjpath.2014.01280","is_oa":true,"landing_page_url":"https://doi.org/10.5146/tjpath.2014.01280","pdf_url":"http://www.turkjpath.org/pdf.php3?id=1716","source":{"id":"https://openalex.org/S2738023707","display_name":"Turkish Journal of Pathology","issn_l":"1018-5615","issn":["1018-5615","1309-5730"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","ki-jl-1","medline","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310318270","host_organization_name":"Federation of Turkish Pathology Societies","host_organization_lineage":["https://openalex.org/P4310318270"],"host_organization_lineage_names":["Federation of Turkish Pathology Societies"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Turkish Journal of Pathology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"http://www.turkjpath.org/pdf.php3?id=1716","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sezin Yakut","raw_affiliation_strings":["Medical Biology and Genetics ,","Obstetrics and Gynecology and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Biology and Genetics ,","institution_ids":[]},{"raw_affiliation_string":"Obstetrics and Gynecology and","institution_ids":[]}]},{"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":[{"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":"Zafer Cetin","raw_affiliation_strings":["Medical Biology and Genetics ,","Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","Department of 1 Medical Biology and Genetics,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Biology and Genetics ,","institution_ids":[]},{"raw_affiliation_string":"Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","institution_ids":["https://openalex.org/I197907453"]},{"raw_affiliation_string":"Department of 1 Medical Biology and Genetics,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010356698","display_name":"Mehmet \u015e\u0131m\u015fek","orcid":"https://orcid.org/0000-0002-1319-4663","observed_orcids":["https://orcid.org/0000-0002-1319-4663"]},"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":"Mehmet Simsek","raw_affiliation_strings":["Obstetrics and Gynecology and 3 Pathology , Akdeniz University , School of Medicine , ANTALYA , TUrkeY","Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","Department of 1 Medical Biology and Genetics,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Obstetrics and Gynecology and 3 Pathology , Akdeniz University , School of Medicine , ANTALYA , TUrkeY","institution_ids":["https://openalex.org/I197907453"]},{"raw_affiliation_string":"Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","institution_ids":["https://openalex.org/I197907453"]},{"raw_affiliation_string":"Department of 1 Medical Biology and Genetics,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111608404","display_name":"Ibrahim Inanc Mendicioglu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ibrahim Inanc Mendicioglu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002984103","display_name":"Havva Serap Toru","orcid":"https://orcid.org/0000-0002-4438-0434","observed_orcids":["https://orcid.org/0000-0002-4438-0434"]},"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":true,"raw_author_name":"Havva Serap Toru","raw_affiliation_strings":["Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","Department of","Department of 1 Medical Biology and Genetics,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","institution_ids":["https://openalex.org/I197907453"]},{"raw_affiliation_string":"Department of","institution_ids":[]},{"raw_affiliation_string":"Department of 1 Medical Biology and Genetics,","institution_ids":[]}]},{"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":[{"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":"Sibel Berker Karauzum","raw_affiliation_strings":["Medical Biology and Genetics ,","Obstetrics and Gynecology and","Pathology, Akdeniz University, School of Medicine, ANTALYA, TUrkeY"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Biology and Genetics ,","institution_ids":[]},{"raw_affiliation_string":"Obstetrics and Gynecology and","institution_ids":[]},{"raw_affiliation_string":"Pathology, Akdeniz University, School of Medicine, ANTALYA, TUrkeY","institution_ids":["https://openalex.org/I197907453"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019676028","display_name":"G\u00fcven L\u00fcleci","orcid":null,"observed_orcids":[]},"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":"Guven Luleci","raw_affiliation_strings":["Medical Biology and Genetics ,","Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","Department of 1 Medical Biology and Genetics,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Biology and Genetics ,","institution_ids":[]},{"raw_affiliation_string":"Akdeniz \u00dcniversitesi T\u0131p Fak\u00fcltesi, Patoloji Anabilim Dal\u0131, AnTAlyA, Turkey","institution_ids":["https://openalex.org/I197907453"]},{"raw_affiliation_string":"Department of 1 Medical Biology and Genetics,","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5002984103"],"corresponding_institution_ids":["https://openalex.org/I197907453"],"apc_list":null,"apc_paid":null,"fwci":0.9291,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.75777943,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"31","issue":"1","first_page":"36","last_page":"44"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9970999956130981,"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":0.9970999956130981,"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":0.0024999999441206455,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/structural-chromosomal-abnormalities","display_name":"structural chromosomal abnormalities","score":0.9700000286102295},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7459999918937683},{"id":"https://openalex.org/keywords/balanced-translocation","display_name":"balanced translocation","score":0.8769999742507935},{"id":"https://openalex.org/keywords/unbalanced-translocation","display_name":"unbalanced translocation","score":0.9919999837875366},{"id":"https://openalex.org/keywords/chromosomal-inversions","display_name":"chromosomal inversions","score":0.949999988079071},{"id":"https://openalex.org/keywords/supernumerary-marker-chromosome","display_name":"supernumerary marker chromosome","score":0.9559999704360962},{"id":"https://openalex.org/keywords/chromosomal-duplication","display_name":"chromosomal duplication","score":0.8109999895095825},{"id":"https://openalex.org/keywords/chromosomal-deletion","display_name":"chromosomal deletion","score":0.9459999799728394},{"id":"https://openalex.org/keywords/ring-chromosomes","display_name":"ring chromosomes","score":0.9980000257492065},{"id":"https://openalex.org/keywords/ultrasound-findings","display_name":"ultrasound findings","score":0.7149999737739563},{"id":"https://openalex.org/keywords/perinatal-autopsy","display_name":"perinatal autopsy","score":0.9409999847412109},{"id":"https://openalex.org/keywords/prenatal-cytogenetic-diagnosis","display_name":"prenatal cytogenetic diagnosis","score":0.7409999966621399},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.574999988079071},{"id":"https://openalex.org/keywords/de-novo-translocation","display_name":"de novo translocation","score":0.5709999799728394}],"concepts":[{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.7989805936813354},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.6658480167388916},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.6599911451339722},{"id":"https://openalex.org/C2776555163","wikidata":"https://www.wikidata.org/wiki/Q1076497","display_name":"Chorionic villus sampling","level":5,"score":0.5667830109596252},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.5147421360015869},{"id":"https://openalex.org/C2780610479","wikidata":"https://www.wikidata.org/wiki/Q7644068","display_name":"Supernumerary","level":2,"score":0.5126694440841675},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.4853316843509674},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.4537430703639984},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.4460596740245819},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4443321228027344},{"id":"https://openalex.org/C2779504383","wikidata":"https://www.wikidata.org/wiki/Q41482","display_name":"Autopsy","level":2,"score":0.42071208357810974},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3873288631439209},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.32252058386802673},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.32246100902557373},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3159645199775696},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.301277756690979},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.2811989486217499},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.24714520573616028},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.11807307600975037},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.06180599331855774},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000649","descriptor_name":"Amniocentesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001344","descriptor_name":"Autopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","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":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D014421","descriptor_name":"Turkey","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016216","descriptor_name":"Ultrasonography, Prenatal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"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":false},{"descriptor_ui":"D055028","descriptor_name":"Comparative Genomic Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.5146/tjpath.2014.01280","doi":"https://doi.org/10.5146/tjpath.2014.01280","is_oa":true,"landing_page_url":"https://doi.org/10.5146/tjpath.2014.01280","pdf_url":"http://www.turkjpath.org/pdf.php3?id=1716","source":{"id":"https://openalex.org/S2738023707","display_name":"Turkish Journal of Pathology","issn_l":"1018-5615","issn":["1018-5615","1309-5730"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","ki-jl-1","medline","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310318270","host_organization_name":"Federation of Turkish Pathology Societies","host_organization_lineage":["https://openalex.org/P4310318270"],"host_organization_lineage_names":["Federation of Turkish Pathology Societies"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Turkish Journal of Pathology","raw_type":"journal-article"},{"id":"pmid:25301051","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25301051","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":"Turk patoloji dergisi","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.5146/tjpath.2014.01280","doi":"https://doi.org/10.5146/tjpath.2014.01280","is_oa":true,"landing_page_url":"https://doi.org/10.5146/tjpath.2014.01280","pdf_url":"http://www.turkjpath.org/pdf.php3?id=1716","source":{"id":"https://openalex.org/S2738023707","display_name":"Turkish Journal of Pathology","issn_l":"1018-5615","issn":["1018-5615","1309-5730"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","ki-jl-1","medline","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310318270","host_organization_name":"Federation of Turkish Pathology Societies","host_organization_lineage":["https://openalex.org/P4310318270"],"host_organization_lineage_names":["Federation of Turkish Pathology Societies"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Turkish Journal of Pathology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1997240844.pdf","grobid_xml":"https://content.openalex.org/works/W1997240844.grobid-xml"},"referenced_works_count":38,"referenced_works":["https://openalex.org/W20747505","https://openalex.org/W36186264","https://openalex.org/W41713199","https://openalex.org/W139984705","https://openalex.org/W1495912443","https://openalex.org/W1551874820","https://openalex.org/W1916591378","https://openalex.org/W1979184003","https://openalex.org/W1981258677","https://openalex.org/W1983872637","https://openalex.org/W2005842919","https://openalex.org/W2018011280","https://openalex.org/W2018297629","https://openalex.org/W2021167414","https://openalex.org/W2039233028","https://openalex.org/W2050742871","https://openalex.org/W2051438905","https://openalex.org/W2057640190","https://openalex.org/W2063164115","https://openalex.org/W2070134771","https://openalex.org/W2076999101","https://openalex.org/W2085395145","https://openalex.org/W2087409091","https://openalex.org/W2090510069","https://openalex.org/W2094940643","https://openalex.org/W2112918690","https://openalex.org/W2113688417","https://openalex.org/W2116416901","https://openalex.org/W2124420640","https://openalex.org/W2132469628","https://openalex.org/W2145074440","https://openalex.org/W2145144133","https://openalex.org/W2163729990","https://openalex.org/W2169249492","https://openalex.org/W2171095513","https://openalex.org/W2339359539","https://openalex.org/W2494653113","https://openalex.org/W6677683329"],"related_works":["https://openalex.org/W1968339746","https://openalex.org/W2177328505","https://openalex.org/W2050742871","https://openalex.org/W2034422043","https://openalex.org/W163156343","https://openalex.org/W2275646784","https://openalex.org/W2090629191","https://openalex.org/W2004455664","https://openalex.org/W2000915121","https://openalex.org/W1970854638"],"abstract_inverted_index":{"UNLABELLED:":[0],"Objective:":[1],"The":[2,80,144],"aim":[3],"of":[4,9,16,27,92,146,166,176,195],"this":[5],"study":[6],"was":[7,75,183],"presentation":[8],"the":[10,173,196],"ultrasonographic":[11],"findings":[12,194],"and":[13,41,61,110,114,134,191],"perinatal":[14,192],"autopsy":[15,193],"cases":[17,30,46,197],"with":[18,89,162,198],"rare":[19,147,199],"chromosomal":[20,73,120,148,177,201],"abnormalities.":[21],"MATERIAL":[22],"AND":[23],"METHOD:":[24],"A":[25,71],"total":[26,164],"10125":[28],"prenatal":[29,50,180],"over":[31],"17":[32],"years":[33],"including":[34,122],"8731":[35],"amniocentesis,":[36],"973":[37],"chorionic":[38],"villus":[39],"sampling,":[40],"421":[42],"fetal":[43],"blood":[44],"sampling":[45],"were":[47,65,86,138],"evaluated":[48],"for":[49,67,205,209],"cytogenetic":[51,54,181],"diagnosis.":[52],"Conventional":[53],"studies,":[55,60],"fluorescence":[56],"in":[57,77,140,160,179],"situ":[58],"hybridization":[59],"Array-CGH":[62],"analysis":[63],"techniques":[64],"used":[66],"genetic":[68,207],"analysis.":[69],"RESULTS:":[70],"structural":[72,84,119,200],"abnormality":[74,178],"observed":[76,83],"95":[78],"cases.":[79,142,212],"most":[81],"frequently":[82],"abnormalities":[85,121,149,202],"balanced":[87,125],"translocations":[88,99],"a":[90,163],"frequency":[91],"53.7%":[93],"(51":[94],"cases)":[95],"followed":[96],"by":[97],"unbalanced":[98,127],"(16.8%),":[100],"inversions":[101],"(11.6%),":[102],"supernumerary":[103,135],"marker":[104,136],"chromosomes":[105,112,137],"(8.4%),":[106],"duplications":[107],"(4.2%),":[108],"deletions":[109],"ring":[111,132],"(2.1%)":[113],"complex":[115],"translocation":[116],"(1.1%).":[117],"Rare":[118],"de":[123],"novo":[124],"translocations,":[126,128],"inversions,":[129],"duplications,":[130],"deletions,":[131],"chromosomes,":[133],"detected":[139],"24":[141],"CONCLUSION:":[143],"rate":[145,165,175],"varies":[150],"from":[151],"2.4%":[152],"(South":[153],"East":[154,188],"Ireland)":[155],"to":[156,186],"12.9%":[157],"(Northern":[158],"England)":[159],"Europe":[161],"7.4/10":[167],"000":[168],"births.":[169],"In":[170],"our":[171],"study,":[172],"overall":[174],"diagnosis":[182],"3.7%,":[184],"similar":[185,211],"South":[187],"Ireland.":[189],"Ultrasonographic":[190],"are":[203],"important":[204],"proper":[206],"counseling":[208],"further":[210]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-13T13:42:25.865203","created_date":"2016-06-24T00:00:00"}
