{"id":"https://openalex.org/W2018154127","doi":"https://doi.org/10.1002/ajmg.a.31633","title":"Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation","display_name":"Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation","publication_year":2007,"publication_date":"2007-03-01","ids":{"openalex":"https://openalex.org/W2018154127","doi":"https://doi.org/10.1002/ajmg.a.31633","mag":"2018154127","pmid":"https://pubmed.ncbi.nlm.nih.gov/17330860"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.31633","doi":"https://doi.org/10.1002/ajmg.a.31633","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.31633","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","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/A5042163697","display_name":"Philippe Mabboux","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102197404","display_name":"Universit\u00e9 Paris-Sud","ror":"https://ror.org/028rypz17","country_code":"FR","type":"education","lineage":["https://openalex.org/I102197404","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210150149","display_name":"H\u00f4pital Antoine-B\u00e9cl\u00e8re","ror":"https://ror.org/04sb8a726","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210150149","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"P. Mabboux","raw_affiliation_strings":["Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique, INSERM U782, H\u00f4pital Antoine B\u00e9cl\u00e8re, APHP, Universit\u00e9 Paris Sud, Clamart, France. philippe.mabboux@abc.aphp.fr","Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","Universite\u0301 Paris Sud, Clamart, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytog\u00e9n\u00e9tique, INSERM U782, H\u00f4pital Antoine B\u00e9cl\u00e8re, APHP, Universit\u00e9 Paris Sud, Clamart, France. philippe.mabboux@abc.aphp.fr","institution_ids":["https://openalex.org/I102197404","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024986238","display_name":"Sophie Brisset","orcid":"https://orcid.org/0009-0004-2151-768X","observed_orcids":["https://orcid.org/0009-0004-2151-768X"]},"institutions":[{"id":"https://openalex.org/I102197404","display_name":"Universit\u00e9 Paris-Sud","ror":"https://ror.org/028rypz17","country_code":"FR","type":"education","lineage":["https://openalex.org/I102197404","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210150149","display_name":"H\u00f4pital Antoine-B\u00e9cl\u00e8re","ror":"https://ror.org/04sb8a726","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210150149","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S. Brisset","raw_affiliation_strings":["Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","Universite\u0301 Paris Sud, Clamart, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025724468","display_name":"Azzedine Aboura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102197404","display_name":"Universit\u00e9 Paris-Sud","ror":"https://ror.org/028rypz17","country_code":"FR","type":"education","lineage":["https://openalex.org/I102197404","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210150149","display_name":"H\u00f4pital Antoine-B\u00e9cl\u00e8re","ror":"https://ror.org/04sb8a726","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210150149","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Aboura","raw_affiliation_strings":["Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","Universite\u0301 Paris Sud, Clamart, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057850968","display_name":"Dominique Pineau","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102197404","display_name":"Universit\u00e9 Paris-Sud","ror":"https://ror.org/028rypz17","country_code":"FR","type":"education","lineage":["https://openalex.org/I102197404","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210150149","display_name":"H\u00f4pital Antoine-B\u00e9cl\u00e8re","ror":"https://ror.org/04sb8a726","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210150149","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"D. Pineau","raw_affiliation_strings":["Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","Universite\u0301 Paris Sud, Clamart, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047236660","display_name":"Val\u00e9rie Koubi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V. Koubi","raw_affiliation_strings":["Laboratoire Pasteur Cerba, De\u0301partement de ge\u0301ne\u0301tique, Cergy Pontoise, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire Pasteur Cerba, De\u0301partement de ge\u0301ne\u0301tique, Cergy Pontoise, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057032943","display_name":"S. Joannidis","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. Joannidis","raw_affiliation_strings":["Service de Me\u0301decine Interne, Ho\u0302pital Ge\u0301ne\u0301ral d'Etampes, Etampes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Me\u0301decine Interne, Ho\u0302pital Ge\u0301ne\u0301ral d'Etampes, Etampes, France","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108593692","display_name":"Philippe Labrune","orcid":"https://orcid.org/0000-0002-0374-0544","observed_orcids":["https://orcid.org/0000-0002-0374-0544"]},"institutions":[{"id":"https://openalex.org/I4210150149","display_name":"H\u00f4pital Antoine-B\u00e9cl\u00e8re","ror":"https://ror.org/04sb8a726","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210150149","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"P. Labrune","raw_affiliation_strings":["Service de Pe\u0301diatrie et Consultation de Ge\u0301ne\u0301tique, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP, Clamart, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Pe\u0301diatrie et Consultation de Ge\u0301ne\u0301tique, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP, Clamart, France","institution_ids":["https://openalex.org/I4210150149"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072415091","display_name":"G\u00e9rard Tachdjian","orcid":"https://orcid.org/0000-0001-7043-6609","observed_orcids":["https://orcid.org/0000-0001-7043-6609"]},"institutions":[{"id":"https://openalex.org/I102197404","display_name":"Universit\u00e9 Paris-Sud","ror":"https://ror.org/028rypz17","country_code":"FR","type":"education","lineage":["https://openalex.org/I102197404","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210150149","display_name":"H\u00f4pital Antoine-B\u00e9cl\u00e8re","ror":"https://ror.org/04sb8a726","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210150149","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"G. Tachdjian","raw_affiliation_strings":["Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","Universite\u0301 Paris Sud, Clamart, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP; Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Service d'Histologie Embryologie Cytoge\u0301ne\u0301tique, INSERM U782, Ho\u0302pital Antoine Be\u0301cle\u0300re, APHP","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"]},{"raw_affiliation_string":"Universite\u0301 Paris Sud, Clamart, France","institution_ids":["https://openalex.org/I102197404"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5042163697"],"corresponding_institution_ids":["https://openalex.org/I102197404","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210150149"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.8317,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.70851049,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"143A","issue":"7","first_page":"727","last_page":"733"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9937000274658203,"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":0.9937000274658203,"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":0.002099999925121665,"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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.0019000000320374966,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational 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/supernumerary-marker-chromosome","display_name":"supernumerary marker chromosome","score":0.8859999775886536},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8050000071525574},{"id":"https://openalex.org/keywords/cryptorchidism","display_name":"cryptorchidism","score":0.9850000143051147},{"id":"https://openalex.org/keywords/facial-anomalies","display_name":"facial anomalies","score":0.8669999837875366},{"id":"https://openalex.org/keywords/nucleolar-organizer-regions","display_name":"nucleolar organizer regions","score":0.9340000152587891},{"id":"https://openalex.org/keywords/de-novo-marker-chromosome","display_name":"de novo marker chromosome","score":0.6819999814033508},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.47699999809265137}],"concepts":[{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.7459733486175537},{"id":"https://openalex.org/C2780610479","wikidata":"https://www.wikidata.org/wiki/Q7644068","display_name":"Supernumerary","level":2,"score":0.7444170713424683},{"id":"https://openalex.org/C24144980","wikidata":"https://www.wikidata.org/wiki/Q780468","display_name":"Chromosome 18","level":4,"score":0.6606121063232422},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.6186332702636719},{"id":"https://openalex.org/C4169854","wikidata":"https://www.wikidata.org/wiki/Q7543590","display_name":"Small supernumerary marker chromosome","level":5,"score":0.616132915019989},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5896759629249573},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.572363555431366},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.5385019183158875},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.45587700605392456},{"id":"https://openalex.org/C130773972","wikidata":"https://www.wikidata.org/wiki/Q904181","display_name":"Marker chromosome","level":5,"score":0.44352275133132935},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.39182448387145996},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.19904255867004395},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1232241690158844}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D002887","descriptor_name":"Chromosomes, Human, Pair 18","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020732","descriptor_name":"Cytogenetic Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.31633","doi":"https://doi.org/10.1002/ajmg.a.31633","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.31633","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:17330860","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17330860","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. Part A","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.6240000128746033,"display_name":"Good health and well-being","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":25,"referenced_works":["https://openalex.org/W627467288","https://openalex.org/W1558221307","https://openalex.org/W1965811524","https://openalex.org/W1974798017","https://openalex.org/W1983536525","https://openalex.org/W1983639464","https://openalex.org/W2025632925","https://openalex.org/W2035607791","https://openalex.org/W2037643225","https://openalex.org/W2037821605","https://openalex.org/W2051752379","https://openalex.org/W2058881337","https://openalex.org/W2071447868","https://openalex.org/W2072140135","https://openalex.org/W2094634940","https://openalex.org/W2105026456","https://openalex.org/W2108760344","https://openalex.org/W2149316006","https://openalex.org/W2151812794","https://openalex.org/W2166594124","https://openalex.org/W2170084082","https://openalex.org/W2170578535","https://openalex.org/W2418977907","https://openalex.org/W2747240861","https://openalex.org/W4230207279"],"related_works":["https://openalex.org/W2013943237","https://openalex.org/W2129384593","https://openalex.org/W3125720251","https://openalex.org/W2142969461","https://openalex.org/W2136666170","https://openalex.org/W2084557983","https://openalex.org/W3029647778","https://openalex.org/W1976305393","https://openalex.org/W2155321242","https://openalex.org/W2041373035"],"abstract_inverted_index":{"Trisomy":[0],"for":[1],"the":[2,51,75,97],"short":[3],"arm":[4,53],"of":[5,54,61,78,93],"chromosome":[6,35,55,63],"18":[7,56],"or":[8,65],"trisomy":[9,83,103],"18p,":[10],"is":[11,105],"rarely":[12],"described.":[13],"We":[14,72],"report":[15,73,90],"on":[16],"a":[17,30,59,79,87],"13-year-old":[18],"boy":[19],"with":[20,29,58,102],"minor":[21],"facial":[22],"anomalies,":[23],"mental":[24,107],"retardation,":[25],"bilateral":[26],"cryptorchidism":[27],"associated":[28,57,101],"de":[31],"novo":[32],"supernumerary":[33],"marker":[34],"(SMC).":[36],"Using":[37],"fluorescence":[38],"in":[39],"situ":[40],"hybridization":[41,45],"and":[42,67,81,91],"comparative":[43],"genomic":[44],"analyses,":[46],"this":[47],"SMC":[48],"corresponded":[49],"to":[50,86],"p":[52],"centromere":[60],"either":[62],"13":[64],"21":[66],"nucleolus":[68],"organizing":[69],"regions":[70],"(NORs).":[71],"here":[74],"first":[76],"case":[77],"pure":[80],"complete":[82],"18p":[84,104],"due":[85],"SMC.":[88],"This":[89],"review":[92],"literature":[94],"confirm":[95],"that":[96],"main":[98],"phenotypic":[99],"anomaly":[100],"moderate":[106],"retardation.":[108]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}