{"id":"https://openalex.org/W1985495532","doi":"https://doi.org/10.4103/0971-6866.100785","title":"46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male","display_name":"46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male","publication_year":2012,"publication_date":"2012-01-01","ids":{"openalex":"https://openalex.org/W1985495532","doi":"https://doi.org/10.4103/0971-6866.100785","mag":"1985495532","pmid":"https://pubmed.ncbi.nlm.nih.gov/23162305","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3491303"},"language":"en","primary_location":{"id":"doi:10.4103/0971-6866.100785","doi":"https://doi.org/10.4103/0971-6866.100785","is_oa":false,"landing_page_url":"https://doi.org/10.4103/0971-6866.100785","pdf_url":null,"source":{"id":"https://openalex.org/S85334534","display_name":"Indian journal of human genetics","issn_l":"1998-362X","issn":["1998-362X","0971-6866"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3491303/pdf/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090450722","display_name":"Serap Tutgun Onrat","orcid":"https://orcid.org/0000-0001-7863-1839","observed_orcids":["https://orcid.org/0000-0001-7863-1839"]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"SerapT Onrat","raw_affiliation_strings":["Department of Medical Genetics, Faculty of Medicine, University of Afyon Kocatepe, Afyonkarahisar, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine, University of Afyon Kocatepe, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010651802","display_name":"Muhsin Elmas","orcid":"https://orcid.org/0000-0002-5626-2160","observed_orcids":["https://orcid.org/0000-0002-5626-2160"]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Muhsin Elmas","raw_affiliation_strings":["Department of Medical Genetics, Faculty of Medicine, University of Afyon Kocatepe, Afyonkarahisar, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine, University of Afyon Kocatepe, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108440591","display_name":"Zafer S\u00f6ylemez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I52407163","display_name":"Afyon Kocatepe University","ror":"https://ror.org/03a1crh56","country_code":"TR","type":"education","lineage":["https://openalex.org/I52407163"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Zafer S\u00f6ylemez","raw_affiliation_strings":["Department of Medical Genetics, Faculty of Medicine, University of Afyon Kocatepe, Afyonkarahisar, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine, University of Afyon Kocatepe, Afyonkarahisar, Turkey","institution_ids":["https://openalex.org/I52407163"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5090450722"],"corresponding_institution_ids":["https://openalex.org/I52407163"],"apc_list":null,"apc_paid":null,"fwci":0.1466,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.44842387,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"18","issue":"2","first_page":"241","last_page":"241"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9707000255584717,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9707000255584717,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.021299999207258224,"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/T10116","display_name":"Sperm and Testicular Function","score":0.0034000000450760126,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"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/azoospermia","display_name":"azoospermia","score":0.8140000104904175},{"id":"https://openalex.org/keywords/male-infertility","display_name":"male infertility","score":0.9319999814033508},{"id":"https://openalex.org/keywords/klinefelter-syndrome","display_name":"Klinefelter syndrome","score":0.7940000295639038},{"id":"https://openalex.org/keywords/hypergonadotropic-hypogonadism","display_name":"hypergonadotropic hypogonadism","score":0.8859999775886536},{"id":"https://openalex.org/keywords/sry-gene","display_name":"SRY gene","score":0.7670000195503235},{"id":"https://openalex.org/keywords/robertsonian-translocation","display_name":"Robertsonian translocation","score":0.6809999942779541},{"id":"https://openalex.org/keywords/unbalanced-translocation","display_name":"unbalanced translocation","score":0.6299999952316284},{"id":"https://openalex.org/keywords/cytogenetic-diagnosis","display_name":"cytogenetic diagnosis","score":0.5130000114440918}],"concepts":[{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.78974848985672},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7509972453117371},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.7410202622413635},{"id":"https://openalex.org/C2777420699","wikidata":"https://www.wikidata.org/wiki/Q794026","display_name":"Azoospermia","level":4,"score":0.7323694229125977},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6205863356590271},{"id":"https://openalex.org/C15151550","wikidata":"https://www.wikidata.org/wiki/Q5262619","display_name":"Derivative chromosome","level":5,"score":0.5940495133399963},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5550596117973328},{"id":"https://openalex.org/C2780302854","wikidata":"https://www.wikidata.org/wiki/Q5958036","display_name":"Hypergonadotropic hypogonadism","level":3,"score":0.48526403307914734},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4586145877838135},{"id":"https://openalex.org/C2777338322","wikidata":"https://www.wikidata.org/wiki/Q280156","display_name":"Male infertility","level":4,"score":0.41818079352378845},{"id":"https://openalex.org/C2780246931","wikidata":"https://www.wikidata.org/wiki/Q202771","display_name":"Y chromosome","level":3,"score":0.4122329652309418},{"id":"https://openalex.org/C2777358149","wikidata":"https://www.wikidata.org/wiki/Q1876491","display_name":"Oligospermia","level":5,"score":0.41036486625671387},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.296052485704422},{"id":"https://openalex.org/C2777688143","wikidata":"https://www.wikidata.org/wiki/Q179399","display_name":"Infertility","level":3,"score":0.2795841097831726},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.20141056180000305},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.13473853468894958},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09940299391746521},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.059691786766052246},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.05671769380569458}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.4103/0971-6866.100785","doi":"https://doi.org/10.4103/0971-6866.100785","is_oa":false,"landing_page_url":"https://doi.org/10.4103/0971-6866.100785","pdf_url":null,"source":{"id":"https://openalex.org/S85334534","display_name":"Indian journal of human genetics","issn_l":"1998-362X","issn":["1998-362X","0971-6866"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1"],"host_organization":"https://openalex.org/P4310320448","host_organization_name":"Medknow","host_organization_lineage":["https://openalex.org/P4310320448","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Medknow","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3491303","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3491303/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3491303/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian J Hum Genet","raw_type":"Text"},{"id":"pmid:23162305","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23162305","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":"Indian journal of human genetics","raw_type":"Case Reports"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3491303","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3491303/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3491303/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.8371999859809875,"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":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1985495532.pdf","grobid_xml":"https://content.openalex.org/works/W1985495532.grobid-xml"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W66861976","https://openalex.org/W91012002","https://openalex.org/W1588409425","https://openalex.org/W1975652212","https://openalex.org/W1980176479","https://openalex.org/W1992462638","https://openalex.org/W1994494775","https://openalex.org/W2009598855","https://openalex.org/W2029619723","https://openalex.org/W2037352053","https://openalex.org/W2038225664","https://openalex.org/W2050361501","https://openalex.org/W2078443584","https://openalex.org/W2081010361","https://openalex.org/W2091916394","https://openalex.org/W2092281272","https://openalex.org/W2111486924","https://openalex.org/W2152428337","https://openalex.org/W2156147446","https://openalex.org/W2162884216","https://openalex.org/W2169580995","https://openalex.org/W2171619679","https://openalex.org/W2339359539","https://openalex.org/W2395893175","https://openalex.org/W2409563106","https://openalex.org/W2416162209","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W2412317991","https://openalex.org/W3214921720","https://openalex.org/W1968906332","https://openalex.org/W2369765544","https://openalex.org/W4402137520","https://openalex.org/W2022255019","https://openalex.org/W2414057386","https://openalex.org/W3189520851","https://openalex.org/W3025124406","https://openalex.org/W4226041443"],"abstract_inverted_index":{"We":[0],"report":[1],"on":[2,50],"a":[3,7,94,119],"Yq/15p":[4],"translocation":[5,97,138,157],"in":[6,148,152,171],"23-year-old":[8],"infertile":[9],"male":[10],"referred":[11],"for":[12],"Klinefelter":[13],"Syndrome":[14],"testing,":[15],"who":[16],"had":[17,118],"azoospermia":[18,149],"and":[19,35,40,82,101,142,150],"bilateral":[20],"small":[21],"testes.":[22],"Hormonal":[23],"studies":[24],"revealed":[25,54],"hypergonadotropic":[26],"hypogonadism.":[27],"Conventional":[28],"cytogenetic":[29,42],"procedures":[30],"giemsa":[31,33],"trypsin":[32],"(GTG)":[34],"high":[36],"resolution":[37],"banding":[38],"(HRB)":[39],"molecular":[41],"techniques":[43],"Fluorescence":[44],"In":[45,103,123],"Situ":[46],"Hybridization":[47],"(FISH)":[48],"performed":[49],"high-resolution":[51],"lymphocyte":[52],"chromosomes":[53],"the":[55,85,88,104,106,113,116,124,126,153,172],"karyotype":[56,86,121],"46,XX,":[57],"t(Y;15)(q12;p11).":[58],"SRY-gene":[59],"was":[60,83,176,182],"confirmed":[61,93],"to":[62,135,161],"be":[63,168],"present":[64],"by":[65],"classical":[66],"Polymerase":[67],"Chain":[68],"Reaction":[69],"(PCR)":[70],"methods.":[71],"His":[72],"father":[73,89,114],"carried":[74],"de":[75],"novo":[76],"derivative":[77],"chromosome":[78,99,140],"15":[79],"[45,X,":[80],"t(Y;15)(q12;p11)]":[81],"fertile;":[84],"of":[87,163],"using":[90],"G-band":[91],"technique":[92],"reciprocal":[95],"balanced":[96],"between":[98,139],"Y":[100,141],"15.":[102],"proband,":[105,125],"der":[107,127],"(15)":[108,128],"has":[109],"been":[110],"inherited":[111],"from":[112],"because":[115],"mother":[117],"normal":[120,177],"(46,XX).":[122],"could":[129],"have":[130,146,159],"produced":[131],"genetic":[132],"imbalance":[133],"leading":[134],"unbalanced":[136],"robertson":[137],"15,":[143],"which":[144,166],"might":[145,158,167],"resulted":[147,169],"infertility":[151,170],"proband.":[154,173],"The":[155],"paternal":[156],"lead":[160],"formation":[162],"imbalanced":[164],"ova,":[165],"Sister's":[174],"karyotypes":[175],"(46,XX)":[178],"while":[179],"his":[180],"brother":[181],"not":[183],"analyzed.":[184]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}
