{"id":"https://openalex.org/W2044707196","doi":"https://doi.org/10.1007/bf00272382","title":"A Y/5 translocation in a 45,X male with cri du chat syndrome","display_name":"A Y/5 translocation in a 45,X male with cri du chat syndrome","publication_year":1987,"publication_date":"1987-10-01","ids":{"openalex":"https://openalex.org/W2044707196","doi":"https://doi.org/10.1007/bf00272382","mag":"2044707196","pmid":"https://pubmed.ncbi.nlm.nih.gov/3653888"},"language":"en","primary_location":{"id":"doi:10.1007/bf00272382","doi":"https://doi.org/10.1007/bf00272382","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00272382","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human 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/A5059517063","display_name":"Bernhard H. F. Weber","orcid":"https://orcid.org/0000-0002-8808-7723","observed_orcids":["https://orcid.org/0000-0002-8808-7723","https://orcid.org/0000-0001-7637-8526"]},"institutions":[{"id":"https://openalex.org/I161046081","display_name":"University of Freiburg","ror":"https://ror.org/0245cg223","country_code":"DE","type":"education","lineage":["https://openalex.org/I161046081"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernhard Weber","raw_affiliation_strings":["Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Freiburg i. Br., Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Freiburg i. Br., Federal Republic of Germany","institution_ids":["https://openalex.org/I161046081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000816192","display_name":"W. Schempp","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161046081","display_name":"University of Freiburg","ror":"https://ror.org/0245cg223","country_code":"DE","type":"education","lineage":["https://openalex.org/I161046081"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Werner Schempp","raw_affiliation_strings":["Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Albertstrasse 11, D-7800, Freiburg i. Br., Federal Republic of Germany","Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Freiburg i.Br., Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Albertstrasse 11, D-7800, Freiburg i. Br., Federal Republic of Germany","institution_ids":["https://openalex.org/I161046081"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Freiburg i.Br., Federal Republic of Germany","institution_ids":["https://openalex.org/I161046081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039737470","display_name":"Ulrike Orth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ulrike Orth","raw_affiliation_strings":["Institut f\u00fcr Humangenetik der Universit\u00e4t, Wilhelmstrasse 31, D-5300, Bonn, Federal Republic of Germany","Institut f\u00fcr Humangenetik der Universit\u00e4t Bonn, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, Wilhelmstrasse 31, D-5300, Bonn, Federal Republic of Germany","institution_ids":["https://openalex.org/I135140700"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t Bonn, Federal Republic of Germany","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080243442","display_name":"Heide Seidel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Heide Seidel","raw_affiliation_strings":["Abteilung p\u00e4diatrische Genetik der Kinderpoliklinik der Universit\u00e4t, Goethestrasse 29, D-8000, M\u00fcnchen 2, Federal Republic of Germany","Abteilung p\u00e4diatrische Genetik der Kinderpoliklinik der Universit\u00e4t, M\u00fcnchen 2, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung p\u00e4diatrische Genetik der Kinderpoliklinik der Universit\u00e4t, Goethestrasse 29, D-8000, M\u00fcnchen 2, Federal Republic of Germany","institution_ids":["https://openalex.org/I8204097"]},{"raw_affiliation_string":"Abteilung p\u00e4diatrische Genetik der Kinderpoliklinik der Universit\u00e4t, M\u00fcnchen 2, Federal Republic of Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5067293009","display_name":"Andreas Gal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Andreas Gal","raw_affiliation_strings":["Institut f\u00fcr Humangenetik der Universit\u00e4t, Wilhelmstrasse 31, D-5300, Bonn, Federal Republic of Germany","Institut f\u00fcr Humangenetik der Universit\u00e4t Bonn, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t, Wilhelmstrasse 31, D-5300, Bonn, Federal Republic of Germany","institution_ids":["https://openalex.org/I135140700"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik der Universit\u00e4t Bonn, Federal Republic of Germany","institution_ids":["https://openalex.org/I135140700"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":0.5366,"has_fulltext":false,"cited_by_count":18,"citation_normalized_percentile":{"value":0.6004422,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":"77","issue":"2","first_page":"145","last_page":"150"},"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":0.7416999936103821,"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":0.7416999936103821,"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":0.25440001487731934,"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/T10434","display_name":"Chromosomal and Genetic Variations","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/cri-du-chat-syndrome","display_name":"cri du chat syndrome","score":0.9480000138282776},{"id":"https://openalex.org/keywords/chromosome-5","display_name":"chromosome 5","score":0.6159999966621399},{"id":"https://openalex.org/keywords/y-chromosome","display_name":"Y chromosome","score":0.43299999833106995},{"id":"https://openalex.org/keywords/pseudoautosomal-region","display_name":"pseudoautosomal region","score":0.9210000038146973},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.949999988079071},{"id":"https://openalex.org/keywords/sex-chromosome-aneuploidy","display_name":"sex chromosome aneuploidy","score":0.6380000114440918}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8763238191604614},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.69261234998703},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.642798662185669},{"id":"https://openalex.org/C2991848491","wikidata":"https://www.wikidata.org/wiki/Q2351083","display_name":"Metabolic disease","level":2,"score":0.4994175434112549},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4869033396244049},{"id":"https://openalex.org/C67082663","wikidata":"https://www.wikidata.org/wiki/Q3523816","display_name":"Molecular medicine","level":4,"score":0.413802832365036},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.1435214877128601},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09310615062713623},{"id":"https://openalex.org/C29537977","wikidata":"https://www.wikidata.org/wiki/Q188941","display_name":"Cell cycle","level":3,"score":0.06274724006652832}],"mesh":[{"descriptor_ui":"D002871","descriptor_name":"Chromosome Banding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003410","descriptor_name":"Cri-du-Chat Syndrome","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":"D007223","descriptor_name":"Infant","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009634","descriptor_name":"Noonan Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009693","descriptor_name":"Nucleic Acid Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014998","descriptor_name":"Y Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1007/bf00272382","doi":"https://doi.org/10.1007/bf00272382","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00272382","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:3653888","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3653888","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":"Human genetics","raw_type":"Case Reports"},{"id":"pmh:oai:epub.uni-regensburg.de:35268","doi":null,"is_oa":false,"landing_page_url":"https://epub.uni-regensburg.de/35268/","pdf_url":null,"source":{"id":"https://openalex.org/S4306401229","display_name":"University of Regensburg Publication Server (University of Regensburg)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I60668342","host_organization_name":"University of Regensburg","host_organization_lineage":["https://openalex.org/I60668342"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"}],"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W14533454","https://openalex.org/W83333510","https://openalex.org/W1482864937","https://openalex.org/W1602996511","https://openalex.org/W1986471634","https://openalex.org/W1990511471","https://openalex.org/W2004171838","https://openalex.org/W2006367369","https://openalex.org/W2006984368","https://openalex.org/W2007100811","https://openalex.org/W2009479136","https://openalex.org/W2011014295","https://openalex.org/W2014669590","https://openalex.org/W2019350341","https://openalex.org/W2023793755","https://openalex.org/W2024079173","https://openalex.org/W2029058925","https://openalex.org/W2034622226","https://openalex.org/W2039416580","https://openalex.org/W2040288051","https://openalex.org/W2040975368","https://openalex.org/W2041018668","https://openalex.org/W2043590645","https://openalex.org/W2052401053","https://openalex.org/W2053852336","https://openalex.org/W2072086800","https://openalex.org/W2073303605","https://openalex.org/W2077940189","https://openalex.org/W2077983382","https://openalex.org/W2080004625","https://openalex.org/W2091021416","https://openalex.org/W2113740686","https://openalex.org/W2140411454","https://openalex.org/W2224929038","https://openalex.org/W2587196717","https://openalex.org/W2602587612","https://openalex.org/W4300895455"],"related_works":["https://openalex.org/W2077983382","https://openalex.org/W2018491682","https://openalex.org/W2070563557","https://openalex.org/W2139552145","https://openalex.org/W83333510","https://openalex.org/W2088663276","https://openalex.org/W2077214285","https://openalex.org/W247800988","https://openalex.org/W2024316906","https://openalex.org/W2004171838"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
