{"id":"https://openalex.org/W2027934871","doi":"https://doi.org/10.1002/pd.797","title":"Structural chromosomal mosaicism and prenatal diagnosis","display_name":"Structural chromosomal mosaicism and prenatal diagnosis","publication_year":2004,"publication_date":"2004-01-28","ids":{"openalex":"https://openalex.org/W2027934871","doi":"https://doi.org/10.1002/pd.797","mag":"2027934871","pmid":"https://pubmed.ncbi.nlm.nih.gov/14974115"},"language":"en","primary_location":{"id":"doi:10.1002/pd.797","doi":"https://doi.org/10.1002/pd.797","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.797","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","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":"Prenatal Diagnosis","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/A5029396002","display_name":"Eva Pipiras","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"E. Pipiras","raw_affiliation_strings":["Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049790582","display_name":"C\u00e9line Dupont","orcid":"https://orcid.org/0000-0001-8329-0346","observed_orcids":["https://orcid.org/0000-0001-8329-0346"]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Dupont","raw_affiliation_strings":["Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique BDR, Ho\u0302pital Jean Verdier, Bondy, France","Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique BDR, Ho\u0302pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074719208","display_name":"Sandra Chantot\u2010Bastaraud","orcid":"https://orcid.org/0000-0001-6446-3504","observed_orcids":["https://orcid.org/0000-0001-6446-3504"]},"institutions":[{"id":"https://openalex.org/I4210166768","display_name":"H\u00f4pital Tenon","ror":"https://ror.org/05h5v3c50","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210166768"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S. Chantot\u2010Bastaraud","raw_affiliation_strings":["Service d'Histologie, Biologie de la Reproduction et Cytoge\u0301ne\u0301tique, Ho\u0302pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biome\u0301dicale, Paris, France","Service d'Histologie, Biologie de la Reproduction et Cytog\u00e9n\u00e9tique, H\u00f4pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biom\u00e9dicale, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie, Biologie de la Reproduction et Cytoge\u0301ne\u0301tique, Ho\u0302pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biome\u0301dicale, Paris, France","institution_ids":["https://openalex.org/I4210166768"]},{"raw_affiliation_string":"Service d'Histologie, Biologie de la Reproduction et Cytog\u00e9n\u00e9tique, H\u00f4pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biom\u00e9dicale, Paris, France","institution_ids":["https://openalex.org/I4210166768"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031075871","display_name":"Jean\u2010Pierre Siffroi","orcid":"https://orcid.org/0000-0001-6130-8058","observed_orcids":["https://orcid.org/0000-0001-6130-8058"]},"institutions":[{"id":"https://openalex.org/I4210166768","display_name":"H\u00f4pital Tenon","ror":"https://ror.org/05h5v3c50","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210166768"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. P. Siffroi","raw_affiliation_strings":["Service d'Histologie, Biologie de la Reproduction et Cytoge\u0301ne\u0301tique, Ho\u0302pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biome\u0301dicale, Paris, France","Service d'Histologie, Biologie de la Reproduction et Cytog\u00e9n\u00e9tique, H\u00f4pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biom\u00e9dicale, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie, Biologie de la Reproduction et Cytoge\u0301ne\u0301tique, Ho\u0302pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biome\u0301dicale, Paris, France","institution_ids":["https://openalex.org/I4210166768"]},{"raw_affiliation_string":"Service d'Histologie, Biologie de la Reproduction et Cytog\u00e9n\u00e9tique, H\u00f4pital Tenon, Paris, France and Laboratoire de Cytologie Histologie, UFR Biom\u00e9dicale, Paris, France","institution_ids":["https://openalex.org/I4210166768"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079033530","display_name":"Martine Bucourt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Bucourt","raw_affiliation_strings":["Service de Foetopathologie, Ho\u0302pital Jean Verdier, Bondy, France","Service de Foetopathologie, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Foetopathologie, Ho\u0302pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Service de Foetopathologie, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113736703","display_name":"A. Batallan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Batallan","raw_affiliation_strings":["Service de Gyne\u0301cologie-Obste\u0301trique, Ho\u0302pital Jean Verdier, Bondy, France","Service de Gyn\u00e9cologie\u2010Obst\u00e9trique, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Gyne\u0301cologie-Obste\u0301trique, Ho\u0302pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085934695","display_name":"C. Largilli\u00e8re","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Largilli\u00e8re","raw_affiliation_strings":["Service de Gyne\u0301cologie-Obste\u0301trique, Ho\u0302pital Jean Verdier, Bondy, France","Service de Gyn\u00e9cologie\u2010Obst\u00e9trique, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Gyne\u0301cologie-Obste\u0301trique, Ho\u0302pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083809427","display_name":"M. Uzan","orcid":"https://orcid.org/0000-0002-8515-5639","observed_orcids":["https://orcid.org/0000-0002-8515-5639"]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Uzan","raw_affiliation_strings":["Service de Gyne\u0301cologie-Obste\u0301trique, Ho\u0302pital Jean Verdier, Bondy, France","Service de Gyn\u00e9cologie\u2010Obst\u00e9trique, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Gyne\u0301cologie-Obste\u0301trique, Ho\u0302pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031783390","display_name":"Jean\u2010Philippe Wolf","orcid":"https://orcid.org/0000-0001-6604-9534","observed_orcids":["https://orcid.org/0000-0001-6604-9534"]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. P. Wolf","raw_affiliation_strings":["Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique BDR, Ho\u0302pital Jean Verdier, Bondy, France","Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique BDR, Ho\u0302pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070125874","display_name":"Brigitte Benzacken","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"B. Benzacken","raw_affiliation_strings":["Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique BDR, Ho\u0302pital Jean Verdier, Bondy, France","Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique BDR, Ho\u0302pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique BDR, H\u00f4pital Jean Verdier, Bondy, France","institution_ids":["https://openalex.org/I4210149664"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5070125874"],"corresponding_institution_ids":["https://openalex.org/I4210149664"],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":74,"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":100},"biblio":{"volume":"24","issue":"2","first_page":"101","last_page":"103"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9810000061988831,"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":0.9810000061988831,"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":0.015399999916553497,"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":0.00039999998989515007,"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/chromosome-15","display_name":"chromosome 15","score":0.7160000205039978},{"id":"https://openalex.org/keywords/translocation","display_name":"translocation","score":0.593999981880188},{"id":"https://openalex.org/keywords/intrauterine-growth-restriction","display_name":"fetal growth restriction","score":0.6290000081062317},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.9380000233650208},{"id":"https://openalex.org/keywords/dolichocephaly","display_name":"dolichocephaly","score":0.7670000195503235},{"id":"https://openalex.org/keywords/hypertelorism","display_name":"hypertelorism","score":0.7929999828338623},{"id":"https://openalex.org/keywords/abortion","display_name":"abortion","score":0.5450000166893005}],"concepts":[{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.6786645650863647},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.6721343994140625},{"id":"https://openalex.org/C2779286207","wikidata":"https://www.wikidata.org/wiki/Q1641128","display_name":"Hypertelorism","level":2,"score":0.6450530886650085},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.5926088094711304},{"id":"https://openalex.org/C2908755955","wikidata":"https://www.wikidata.org/wiki/Q744962","display_name":"Chromosomal Abnormality","level":5,"score":0.5606917142868042},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5409227013587952},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.5315425395965576},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.510466456413269},{"id":"https://openalex.org/C174475383","wikidata":"https://www.wikidata.org/wiki/Q246128","display_name":"Cytogenetics","level":4,"score":0.49141180515289307},{"id":"https://openalex.org/C2780189214","wikidata":"https://www.wikidata.org/wiki/Q744962","display_name":"Chromosome abnormality","level":5,"score":0.49093368649482727},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4383324682712555},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.41305142641067505},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.36694902181625366},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.34617966413497925},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31360185146331787},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.2712588906288147},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"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":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002884","descriptor_name":"Chromosomes, Human, Pair 15","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002889","descriptor_name":"Chromosomes, Human, Pair 2","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":"D005317","descriptor_name":"Fetal Growth Retardation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009030","descriptor_name":"Mosaicism","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011262","descriptor_name":"Pregnancy Trimester, Second","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":"D016216","descriptor_name":"Ultrasonography, Prenatal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017809","descriptor_name":"Fatal Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018929","descriptor_name":"Cell Culture Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/pd.797","doi":"https://doi.org/10.1002/pd.797","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.797","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","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":"Prenatal Diagnosis","raw_type":"journal-article"},{"id":"pmid:14974115","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14974115","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":"Prenatal diagnosis","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1963663734","https://openalex.org/W1970493026","https://openalex.org/W1991416384","https://openalex.org/W1994038375","https://openalex.org/W2001635381","https://openalex.org/W2002067616","https://openalex.org/W2008621607","https://openalex.org/W2008984208","https://openalex.org/W2017440143","https://openalex.org/W2043521918","https://openalex.org/W2067361372","https://openalex.org/W2087736392","https://openalex.org/W2106524506","https://openalex.org/W2118614755","https://openalex.org/W2125698769","https://openalex.org/W2129193938","https://openalex.org/W2136386515","https://openalex.org/W2160056905","https://openalex.org/W2165140437"],"related_works":["https://openalex.org/W135165977","https://openalex.org/W2043521918","https://openalex.org/W4206932497","https://openalex.org/W2114309631","https://openalex.org/W2050342781","https://openalex.org/W2089466927","https://openalex.org/W2086849257","https://openalex.org/W2091010647","https://openalex.org/W2791956201","https://openalex.org/W2078150714"],"abstract_inverted_index":{"True":[0],"structural":[1,104],"chromosomal":[2,103],"mosaicism":[3,100],"are":[4,106],"rare":[5],"events":[6],"in":[7,43,48],"prenatal":[8,99],"cytogenetics":[9],"practice":[10],"and":[11,16,64,85],"may":[12],"lead":[13],"to":[14],"diagnostic":[15],"prognostic":[17],"problems.":[18],"Here":[19],"is":[20],"described":[21],"the":[22,46],"case":[23],"of":[24,33,45,92],"a":[25,34,51,68,73,86,102],"fetus":[26,65],"carrying":[27],"an":[28],"abnormal":[29],"chromosome":[30,36],"15":[31],"made":[32],"whole":[35],"2p":[37],"translocated":[38],"on":[39],"its":[40],"short":[41],"arm":[42],"10%":[44],"cells,":[47],"association":[49],"with":[50,72,82],"normal":[52],"cell":[53],"line.":[54],"The":[55],"fetal":[56],"karyotype":[57],"was":[58,62],"46,XX,add(15)(p10).ish":[59],"t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27].":[60],"Pregnancy":[61],"terminated":[63],"examination":[66],"revealed":[67],"growth":[69],"retardation":[70],"associated":[71],"dysmorphism":[74],"including":[75],"dolichocephaly,":[76],"hypertelorism,":[77],"high":[78],"forehead,":[79],"low-set":[80],"ears":[81],"prominent":[83],"anthelix":[84],"small":[87],"nose,":[88],"which":[89],"were":[90],"characteristic":[91],"partial":[93],"trisomy":[94],"2p.":[95],"Possible":[96],"aetiologies":[97],"for":[98],"involving":[101],"abnormality":[105],"discussed.":[107]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":32},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
