{"id":"https://openalex.org/W3203371329","doi":"https://doi.org/10.1186/s13039-021-00568-9","title":"Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array","display_name":"Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array","publication_year":2021,"publication_date":"2021-09-29","ids":{"openalex":"https://openalex.org/W3203371329","doi":"https://doi.org/10.1186/s13039-021-00568-9","mag":"3203371329","pmid":"https://pubmed.ncbi.nlm.nih.gov/34587985","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8482616"},"language":"en","primary_location":{"id":"doi:10.1186/s13039-021-00568-9","doi":"https://doi.org/10.1186/s13039-021-00568-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13039-021-00568-9","pdf_url":"https://molecularcytogenetics.biomedcentral.com/track/pdf/10.1186/s13039-021-00568-9","source":{"id":"https://openalex.org/S144751283","display_name":"Molecular Cytogenetics","issn_l":"1755-8166","issn":["1755-8166"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Cytogenetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://molecularcytogenetics.biomedcentral.com/track/pdf/10.1186/s13039-021-00568-9","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006056980","display_name":"Jianlong Zhuang","orcid":"https://orcid.org/0000-0001-8087-205X","observed_orcids":["https://orcid.org/0000-0001-8087-205X"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jianlong Zhuang","raw_affiliation_strings":["Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100385290","display_name":"Na Zhang","orcid":"https://orcid.org/0000-0003-1794-1053","observed_orcids":["https://orcid.org/0000-0003-1794-1053"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Na Zhang","raw_affiliation_strings":["Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110668778","display_name":"Wanyu Fu","orcid":"https://orcid.org/0009-0001-8542-5491","observed_orcids":["https://orcid.org/0009-0001-8542-5491"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wanyu Fu","raw_affiliation_strings":["Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jianfeng Yao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jianfeng Yao","raw_affiliation_strings":["Department of Women Healthcare, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women Healthcare, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100420272","display_name":"Yanqing Li","orcid":"https://orcid.org/0000-0003-0575-0399","observed_orcids":["https://orcid.org/0000-0003-0575-0399"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanqing Li","raw_affiliation_strings":["Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038627551","display_name":"Shuhong Zeng","orcid":"https://orcid.org/0000-0001-5548-790X","observed_orcids":["https://orcid.org/0000-0001-5548-790X"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shuhong Zeng","raw_affiliation_strings":["Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081701824","display_name":"Yuanbai Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yuanbai Wang","raw_affiliation_strings":["Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004836644","display_name":"Yingjun Xie","orcid":"https://orcid.org/0000-0002-4960-2112","observed_orcids":["https://orcid.org/0000-0002-4960-2112"]},"institutions":[{"id":"https://openalex.org/I4210092091","display_name":"Third Affiliated Hospital of Guangzhou Medical University","ror":"https://ror.org/00fb35g87","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210092091"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yingjun Xie","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, Guangdong, People's Republic of China. xieyjun@mail2.sysu.edu.cn","Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, Guangdong, People's Republic of China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, Guangdong, People's Republic of China. xieyjun@mail2.sysu.edu.cn","institution_ids":["https://openalex.org/I4210092091"]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, Guangdong, People's Republic of China","institution_ids":["https://openalex.org/I4210092091"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101832087","display_name":"Yuying Jiang","orcid":"https://orcid.org/0000-0003-0427-1935","observed_orcids":["https://orcid.org/0000-0003-0427-1935"]},"institutions":[{"id":"https://openalex.org/I4405263561","display_name":"Quanzhou Women and Children's Hospital","ror":"https://ror.org/02scvt034","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4405263561"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yuying Jiang","raw_affiliation_strings":["Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China. 1287194067@qq.com","Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China"],"raw_orcid":"https://orcid.org/0000-0003-0427-1935","affiliations":[{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China. 1287194067@qq.com","institution_ids":["https://openalex.org/I4405263561"]},{"raw_affiliation_string":"Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, 362000, Fujian, People's Republic of China","institution_ids":["https://openalex.org/I4405263561"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5004836644","https://openalex.org/A5101832087"],"corresponding_institution_ids":["https://openalex.org/I4210092091","https://openalex.org/I4405263561"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":1.1309,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.76440822,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"14","issue":"1","first_page":"46","last_page":"46"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9980000257492065,"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":0.9980000257492065,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.0010000000474974513,"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/T13664","display_name":"Genome Rearrangement Algorithms","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/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9259999990463257},{"id":"https://openalex.org/keywords/intrauterine-growth-restriction","display_name":"fetal growth restriction","score":0.9549999833106995},{"id":"https://openalex.org/keywords/atrioventricular-septal-defect","display_name":"atrioventricular septal defect","score":0.996999979019165},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.6579999923706055},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.7070000171661377},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.5669999718666077}],"concepts":[{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.8292542099952698},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6824474334716797},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.660637378692627},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.65520179271698},{"id":"https://openalex.org/C2779142324","wikidata":"https://www.wikidata.org/wiki/Q3321288","display_name":"Monosomy","level":5,"score":0.6453930139541626},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.5473752021789551},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5444449782371521},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.5324535965919495},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.45165032148361206},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.43667715787887573},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.43440765142440796},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.4162580072879791},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.3653571903705597},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3424360156059265},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2983889579772949},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.14616161584854126}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1186/s13039-021-00568-9","doi":"https://doi.org/10.1186/s13039-021-00568-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13039-021-00568-9","pdf_url":"https://molecularcytogenetics.biomedcentral.com/track/pdf/10.1186/s13039-021-00568-9","source":{"id":"https://openalex.org/S144751283","display_name":"Molecular Cytogenetics","issn_l":"1755-8166","issn":["1755-8166"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Cytogenetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:7380435","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC8482616","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:8482616","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8482616","pdf_url":null,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Cytogenet","raw_type":"Text"},{"id":"pmid:34587985","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34587985","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":"Molecular cytogenetics","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:fcdd2cc4f8624f8c985a2c243356cd69","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/fcdd2cc4f8624f8c985a2c243356cd69","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-10 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s13039-021-00568-9","doi":"https://doi.org/10.1186/s13039-021-00568-9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13039-021-00568-9","pdf_url":"https://molecularcytogenetics.biomedcentral.com/track/pdf/10.1186/s13039-021-00568-9","source":{"id":"https://openalex.org/S144751283","display_name":"Molecular Cytogenetics","issn_l":"1755-8166","issn":["1755-8166"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Cytogenetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G4087410010","display_name":null,"funder_award_id":"2020QNB045","funder_id":"https://openalex.org/F4320328318","funder_display_name":"Fujian Provincial Health Commission"},{"id":"https://openalex.org/G4147748624","display_name":null,"funder_award_id":"2020C026R","funder_id":"https://openalex.org/F4320329898","funder_display_name":"Science and Technology Bureau of Quanzhou"}],"funders":[{"id":"https://openalex.org/F4320328318","display_name":"Fujian Provincial Health Commission","ror":"https://ror.org/0136mc929"},{"id":"https://openalex.org/F4320329898","display_name":"Science and Technology Bureau of Quanzhou","ror":"https://ror.org/04f30k227"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3203371329.pdf","grobid_xml":"https://content.openalex.org/works/W3203371329.grobid-xml"},"referenced_works_count":37,"referenced_works":["https://openalex.org/W65983851","https://openalex.org/W324252202","https://openalex.org/W1523853278","https://openalex.org/W1539222075","https://openalex.org/W1559997452","https://openalex.org/W1969415039","https://openalex.org/W1970295469","https://openalex.org/W1976314142","https://openalex.org/W1991633140","https://openalex.org/W1993535694","https://openalex.org/W2010979332","https://openalex.org/W2013721260","https://openalex.org/W2016790252","https://openalex.org/W2028573285","https://openalex.org/W2028748648","https://openalex.org/W2036084219","https://openalex.org/W2039863968","https://openalex.org/W2040624896","https://openalex.org/W2057713733","https://openalex.org/W2063529761","https://openalex.org/W2069092660","https://openalex.org/W2070886334","https://openalex.org/W2082898019","https://openalex.org/W2089012826","https://openalex.org/W2091101210","https://openalex.org/W2097751239","https://openalex.org/W2108295307","https://openalex.org/W2162794205","https://openalex.org/W2164762331","https://openalex.org/W2169470584","https://openalex.org/W2336359960","https://openalex.org/W2471366738","https://openalex.org/W2738316685","https://openalex.org/W2793174946","https://openalex.org/W2899923598","https://openalex.org/W2965516962","https://openalex.org/W6602692127"],"related_works":["https://openalex.org/W3217457353","https://openalex.org/W2258266363","https://openalex.org/W1601990316","https://openalex.org/W7027669085","https://openalex.org/W2009450868","https://openalex.org/W4288096389","https://openalex.org/W2272604665","https://openalex.org/W799524048","https://openalex.org/W2413451475","https://openalex.org/W1978996819"],"abstract_inverted_index":{"AIMS:":[0],"There":[1],"is":[2],"little":[3],"knowledge":[4],"about":[5],"partial":[6,25,85,178],"trisomy":[7,86,179],"4q":[8,27,47,87,180,198],"and":[9,39,56,103,143],"the":[10,18,34,37,40,77,144,154,173,177,205,211],"genotype-phenotype":[11],"correlation.":[12],"In":[13,168,187],"this":[14,52],"study,":[15,170],"we":[16,171],"presented":[17],"detail":[19],"of":[20,112,141,207,215],"two":[21],"Chinese":[22],"families":[23,83],"with":[24,45,84,115,139,182],"distal":[26,46,135],"duplication":[28,48,111,137,199],"in":[29,51,68,92,130,197,213],"an":[30,104],"attempt":[31],"to":[32,75,164,204,210],"clarify":[33],"correlation":[35],"between":[36],"genotype":[38],"phenotype.":[41],"METHODS:":[42],"Two":[43,82],"pedigrees":[44],"were":[49,62,88],"enrolled":[50],"study.":[53],"Karyotype":[54],"analysis":[55],"single-nucleotide":[57],"polymorphism":[58],"(SNP)":[59],"array":[60],"detection":[61],"performed":[63],"for":[64,172],"prenatal":[65],"diagnosis.":[66],"Fluorescence":[67],"situ":[69],"hybridization":[70],"analysis.":[71],"(FISH)":[72],"was":[73,146],"conducted":[74],"verify":[76],"copy":[78],"number":[79],"variants.":[80],"RESULTS:":[81],"identified.":[89],"The":[90,128],"fetus":[91,129],"pedigree":[93,131],"1":[94],"exhibited":[95,158],"multiple":[96],"ultrasound":[97],"anomalies":[98],"including":[99],"intrauterine":[100],"growth":[101],"restriction":[102],"atrioventricular":[105],"septal":[106],"defect":[107],"who":[108,157],"had":[109,133],"a":[110,134,159],"4q28.3-qter":[113,136],"associate":[114,181],"6p25.2-p25.3":[116],"deletion,":[117],"which":[118,150],"resulted":[119],"from":[120,153],"balanced":[121],"translocation":[122],"carried":[123],"by":[124],"his":[125],"father":[126],"t(4;6)(q28.3;p25.2).":[127],"2":[132],"combined":[138],"monosomy":[140],"Xp21.3-p22.3,":[142],"karyotype":[145],"described":[147],"as":[148],"46,X,der(X)t(X;4)(p21.3;q28.3)mat,":[149],"originally":[151],"inherited":[152],"pregnant":[155],"woman":[156],"mild":[160,194],"clinical":[161,195],"phenotype":[162,196],"limited":[163],"short":[165],"stature.":[166],"CONCLUSIONS:":[167],"our":[169,189],"first":[174],"time":[175],"identified":[176],"6p":[183],"or":[184],"Xp":[185],"deletion.":[186],"addition,":[188],"finding":[190],"further":[191],"strengthens":[192],"that":[193],"case":[200],"may":[201],"be":[202],"due":[203],"spreading":[206],"X":[208],"inactivation":[209],"autosomal":[212],"derivation":[214],"chromosome":[216],"X.":[217]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2021-10-11T00:00:00"}
