{"id":"https://openalex.org/W2016247877","doi":"https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","title":"Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13","display_name":"Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13","publication_year":1997,"publication_date":"1997-01-20","ids":{"openalex":"https://openalex.org/W2016247877","doi":"https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","mag":"2016247877","pmid":"https://pubmed.ncbi.nlm.nih.gov/9028465"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","doi":"https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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","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/A5109901944","display_name":"Attila Tar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801419141","display_name":"Buda Health Center","ror":"https://ror.org/00yx04352","country_code":"HU","type":"healthcare","lineage":["https://openalex.org/I2801419141"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"A. Tar","raw_affiliation_strings":["Buda Children's Hospital, Budapest, Hungary"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Buda Children's Hospital, Budapest, Hungary","institution_ids":["https://openalex.org/I2801419141"]}]},{"author_position":"middle","author":{"id":null,"display_name":"A. Ion","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210163467","display_name":"H\u00f4pital Saint-Vincent-de-Paul","ror":"https://ror.org/03vw2zn10","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210163467"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Ion","raw_affiliation_strings":["Laboratoire de Cytoge\u0301ne\u0301tique Constitutionelle, Ho\u0302pital St. Vincent de Paul, Paris, France","Laboratoire de Cytog\u00e9n\u00e9tique Constitutionelle, H\u00f4pital St. Vincent de Paul, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Cytoge\u0301ne\u0301tique Constitutionelle, Ho\u0302pital St. Vincent de Paul, Paris, France","institution_ids":["https://openalex.org/I4210163467"]},{"raw_affiliation_string":"Laboratoire de Cytog\u00e9n\u00e9tique Constitutionelle, H\u00f4pital St. Vincent de Paul, Paris, France","institution_ids":["https://openalex.org/I4210163467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110969679","display_name":"J. S\u00f3lyom","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I101202996","display_name":"Semmelweis University","ror":"https://ror.org/01g9ty582","country_code":"HU","type":"education","lineage":["https://openalex.org/I101202996"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"J. S\u00f3lyom","raw_affiliation_strings":["Second Department of Pedriatrics, Semmelweis University, Budapest, Hungary"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Pedriatrics, Semmelweis University, Budapest, Hungary","institution_ids":["https://openalex.org/I101202996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037367913","display_name":"B. Gy\u00f6rv\u00e1ri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I101202996","display_name":"Semmelweis University","ror":"https://ror.org/01g9ty582","country_code":"HU","type":"education","lineage":["https://openalex.org/I101202996"]}],"countries":["HU"],"is_corresponding":false,"raw_author_name":"B. Gy\u00f6rv\u00e1ri","raw_affiliation_strings":["Second Department of Pedriatrics, Semmelweis University, Budapest, Hungary"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Second Department of Pedriatrics, Semmelweis University, Budapest, Hungary","institution_ids":["https://openalex.org/I101202996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062261207","display_name":"Christine F. Stephenson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C. Stephenson","raw_affiliation_strings":["Oncogenetics, Phoenix, Arizona"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oncogenetics, Phoenix, Arizona","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080315570","display_name":"Sandrine Barbaux","orcid":"https://orcid.org/0000-0002-8204-1855","observed_orcids":["https://orcid.org/0000-0002-8204-1855"]},"institutions":[{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I157536573"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S. Barbaux","raw_affiliation_strings":["Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]},{"raw_affiliation_string":"Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047822176","display_name":"Mark E. Nu\u00f1es","orcid":"https://orcid.org/0000-0001-6338-1726","observed_orcids":["https://orcid.org/0000-0001-6338-1726"]},"institutions":[{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I157536573"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Nunes","raw_affiliation_strings":["Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]},{"raw_affiliation_string":"Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107749841","display_name":"Marc Fellous","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I157536573"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Fellous","raw_affiliation_strings":["Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]},{"raw_affiliation_string":"Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046902524","display_name":"Ken McElreavey","orcid":"https://orcid.org/0000-0001-6582-1801","observed_orcids":["https://orcid.org/0000-0001-6582-1801"]},"institutions":[{"id":"https://openalex.org/I157536573","display_name":"Institut Pasteur","ror":"https://ror.org/0495fxg12","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I157536573"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"K. McElreavey","raw_affiliation_strings":["Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunoge\u0301ne\u0301tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]},{"raw_affiliation_string":"Immunog\u00e9n\u00e9tique Humaine, Institut Pasteur, Paris Cedex, France","institution_ids":["https://openalex.org/I157536573"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5046902524"],"corresponding_institution_ids":["https://openalex.org/I157536573"],"apc_list":null,"apc_paid":null,"fwci":1.0007,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.74894832,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"68","issue":"2","first_page":"231","last_page":"235"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11815","display_name":"Urological Disorders and Treatments","score":0.46140000224113464,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"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/T11815","display_name":"Urological Disorders and Treatments","score":0.46140000224113464,"subfield":{"id":"https://openalex.org/subfields/2748","display_name":"Urology"},"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.36739999055862427,"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.08649999648332596,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/hypertelorism","display_name":"hypertelorism","score":0.8309999704360962},{"id":"https://openalex.org/keywords/hypospadias","display_name":"hypospadias","score":0.996999979019165},{"id":"https://openalex.org/keywords/de-novo-balanced-translocation","display_name":"de novo balanced translocation","score":0.8389999866485596},{"id":"https://openalex.org/keywords/cryptorchidism","display_name":"cryptorchidism","score":0.8849999904632568},{"id":"https://openalex.org/keywords/ambiguous-genitalia","display_name":"ambiguous genitalia","score":0.8130000233650208},{"id":"https://openalex.org/keywords/male-sex-differentiation","display_name":"male sex differentiation","score":0.7710000276565552},{"id":"https://openalex.org/keywords/5-alpha-reductase-deficiency","display_name":"5-alpha-reductase deficiency","score":0.7260000109672546},{"id":"https://openalex.org/keywords/androgen-receptor","display_name":"androgen receptor","score":0.859000027179718},{"id":"https://openalex.org/keywords/sry-gene","display_name":"SRY gene","score":0.7910000085830688},{"id":"https://openalex.org/keywords/testicular-function","display_name":"testicular function","score":0.6110000014305115},{"id":"https://openalex.org/keywords/minor-physical-anomalies","display_name":"minor physical anomalies","score":0.41600000858306885},{"id":"https://openalex.org/keywords/skeletal-abnormalities","display_name":"skeletal abnormalities","score":0.8330000042915344}],"concepts":[{"id":"https://openalex.org/C2777990738","wikidata":"https://www.wikidata.org/wiki/Q1132108","display_name":"Hypospadias","level":2,"score":0.8348459005355835},{"id":"https://openalex.org/C2779286207","wikidata":"https://www.wikidata.org/wiki/Q1641128","display_name":"Hypertelorism","level":2,"score":0.7147639393806458},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.702876091003418},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.5471925735473633},{"id":"https://openalex.org/C2908730789","wikidata":"https://www.wikidata.org/wiki/Q2273662","display_name":"Male pseudohermaphroditism","level":2,"score":0.5057356357574463},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.4875869154930115},{"id":"https://openalex.org/C73456138","wikidata":"https://www.wikidata.org/wiki/Q409114","display_name":"Testis determining factor","level":4,"score":0.4677940011024475},{"id":"https://openalex.org/C2778339303","wikidata":"https://www.wikidata.org/wiki/Q7847568","display_name":"True hermaphroditism","level":5,"score":0.4525739550590515},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4496574103832245},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.44938957691192627},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.43888336420059204},{"id":"https://openalex.org/C61367390","wikidata":"https://www.wikidata.org/wiki/Q416601","display_name":"Androgen receptor","level":4,"score":0.4137817919254303},{"id":"https://openalex.org/C2780246931","wikidata":"https://www.wikidata.org/wiki/Q202771","display_name":"Y chromosome","level":3,"score":0.37832117080688477},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.36153846979141235},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23747318983078003},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.234144926071167},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1303030252456665},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.0},{"id":"https://openalex.org/C2780192828","wikidata":"https://www.wikidata.org/wiki/Q181257","display_name":"Prostate cancer","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002890","descriptor_name":"Chromosomes, Human, Pair 20","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005938","descriptor_name":"Glucocorticoids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006972","descriptor_name":"Hypertelorism","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006972","descriptor_name":"Hypertelorism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007021","descriptor_name":"Hypospadias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D007021","descriptor_name":"Hypospadias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","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":"D008901","descriptor_name":"Mineralocorticoids","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010088","descriptor_name":"Oxidoreductases","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D011944","descriptor_name":"Receptors, Androgen","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013739","descriptor_name":"Testosterone","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051876","descriptor_name":"Sex-Determining Region Y Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","doi":"https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19970120)68:2<231::aid-ajmg22>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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","raw_type":"journal-article"},{"id":"pmid:9028465","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9028465","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","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"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":24,"referenced_works":["https://openalex.org/W1973295687","https://openalex.org/W1977546681","https://openalex.org/W1988743583","https://openalex.org/W1991371888","https://openalex.org/W2012607667","https://openalex.org/W2013246689","https://openalex.org/W2019154548","https://openalex.org/W2019904951","https://openalex.org/W2021039047","https://openalex.org/W2039508988","https://openalex.org/W2040833865","https://openalex.org/W2050602600","https://openalex.org/W2071325029","https://openalex.org/W2080166321","https://openalex.org/W2084801916","https://openalex.org/W2092762918","https://openalex.org/W2093601562","https://openalex.org/W2094526873","https://openalex.org/W2130512999","https://openalex.org/W2408906842","https://openalex.org/W2418956189","https://openalex.org/W2429527838","https://openalex.org/W2500225751","https://openalex.org/W6713968213"],"related_works":["https://openalex.org/W1996441534","https://openalex.org/W1976561061","https://openalex.org/W2026575551","https://openalex.org/W2095480325","https://openalex.org/W1993315064","https://openalex.org/W2026096378","https://openalex.org/W2427912845","https://openalex.org/W3000334589","https://openalex.org/W2007556836","https://openalex.org/W1971635653"],"abstract_inverted_index":{"A":[0],"de":[1],"novo":[2],"apparently":[3,85],"balanced":[4],"translocation":[5],"involving":[6,160],"chromosomes":[7],"8":[8,59],"and":[9,23,36,64,81,91,109,119,154],"20":[10,61],"was":[11,41],"found":[12,125],"in":[13,89,102,138],"a":[14,100,132,165],"14-year-old":[15],"boy":[16],"with":[17,53,156],"minor":[18],"anomalies,":[19],"mild":[20],"skeletal":[21],"abnormalities":[22],"ambiguous":[24],"external":[25,69],"genitalia":[26,70],"including":[27],"perineoscrotal":[28],"hypospadias,":[29],"rudimentary":[30],"fused":[31],"labioscrotal":[32],"folds,":[33],"bilateral":[34],"cryptorchidism,":[35],"small":[37],"penis.":[38],"The":[39],"karyotype":[40],"46,XY,":[42],"t(8;20)(q22.3-23;p13).":[43],"No":[44],"signs":[45],"of":[46,56,67,77,106,114,131,141,152],"other":[47,147],"conditions":[48],"known":[49],"to":[50,72,126,129],"be":[51,73,127],"associated":[52],"structural":[54],"anomalies":[55],"either":[57],"chromosome":[58],"or":[60,99,158],"were":[62,124],"present":[63,143],"incomplete":[65],"masculinisation":[66],"the":[68,74,78,115,139,142,150],"appears":[71],"main":[75],"component":[76],"phenotype.":[79],"Clinical":[80],"biological":[82],"studies":[83],"showed":[84],"normal":[86,133],"testicular":[87],"function":[88],"utero":[90],"after":[92],"birth.":[93],"Examinations":[94],"excluded":[95],"5":[96],"alpha-reductase":[97],"deficiency":[98],"block":[101],"any":[103],"enzymatic":[104],"steps":[105],"testosterone,":[107],"glucocorticoid":[108],"mineralocorticoid":[110],"biosynthesis.":[111],"Coding":[112],"sequences":[113],"sex-determining":[116],"gene":[117,122],"(SRY)":[118],"androgen":[120],"receptor":[121],"(AR)":[123],"identical":[128],"those":[130],"male":[134,169],"excluding":[135],"their":[136],"role":[137],"cause":[140],"condition.":[144],"Since":[145],"several":[146],"reports":[148],"describe":[149],"association":[151],"hypospadias":[153],"hypertelorism":[155],"deletions":[157],"translocations":[159],"8q,":[161],"we":[162],"suggest":[163],"that":[164],"locus":[166],"necessary":[167],"for":[168],"sex":[170],"differentiation":[171],"is":[172],"located":[173],"at":[174],"distal":[175],"8q.":[176]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}