{"id":"https://openalex.org/W2380765446","doi":null,"title":"Cytogenetic and molecular genetic analysis of Down's Syndrome-287 cases","display_name":"Cytogenetic and molecular genetic analysis of Down's Syndrome-287 cases","publication_year":2010,"publication_date":"2010-01-01","ids":{"openalex":"https://openalex.org/W2380765446","mag":"2380765446"},"language":"en","primary_location":{"id":"mag:2380765446","doi":null,"is_oa":false,"landing_page_url":"https://en.cnki.com.cn/Article_en/CJFDTotal-ZQYK201004036.htm","pdf_url":null,"source":{"id":"https://openalex.org/S2764530780","display_name":"Chongqing Yike Daxue xuebao","issn_l":"0253-3626","issn":["0253-3626"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4323430483","host_organization_name":"Chongqing Medical University","host_organization_lineage":["https://openalex.org/P4323430483"],"host_organization_lineage_names":["Chongqing Medical University"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Chongqing Yike Daxue xuebao","raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5101512965","display_name":"Cui Song","orcid":"https://orcid.org/0000-0002-2743-2044","observed_orcids":["https://orcid.org/0000-0002-2743-2044"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Cui Song","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-2743-2044","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5101512965"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.36611378,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9994999766349792,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0003000000142492354,"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":9.999999747378752e-05,"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/down-syndrome","display_name":"Down syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/karyotype-distribution","display_name":"karyotype distribution","score":0.9269999861717224},{"id":"https://openalex.org/keywords/chromosomal-mosaicism","display_name":"chromosomal mosaicism","score":0.8640000224113464},{"id":"https://openalex.org/keywords/fluorescence-in-situ-hybridization","display_name":"fluorescence in situ hybridization","score":0.9819999933242798},{"id":"https://openalex.org/keywords/triploidy","display_name":"triploidy","score":0.8069999814033508}],"concepts":[{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.9758822917938232},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.8201490640640259},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5854527950286865},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5805490016937256},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.5319032669067383},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4349799156188965},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.06241494417190552}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2380765446","doi":null,"is_oa":false,"landing_page_url":"https://en.cnki.com.cn/Article_en/CJFDTotal-ZQYK201004036.htm","pdf_url":null,"source":{"id":"https://openalex.org/S2764530780","display_name":"Chongqing Yike Daxue xuebao","issn_l":"0253-3626","issn":["0253-3626"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4323430483","host_organization_name":"Chongqing Medical University","host_organization_lineage":["https://openalex.org/P4323430483"],"host_organization_lineage_names":["Chongqing Medical University"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Chongqing Yike Daxue xuebao","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2370046885","https://openalex.org/W2351989436","https://openalex.org/W2288941074","https://openalex.org/W2377380278","https://openalex.org/W2075432448","https://openalex.org/W2351043033","https://openalex.org/W6990291815","https://openalex.org/W2352341416","https://openalex.org/W1995046329","https://openalex.org/W1985221609"],"abstract_inverted_index":{"Objective:To":[0],"better":[1],"understand":[2],"the":[3,19,32,36,41,47,64,68,73,83,89,98,101,104,127,131,158,166,178,182,188,212,215,219],"karyotype":[4,23,60,65,110,118,129,133,149,160,171,176,180,202],"distribution":[5],"ofthe":[6],"patients":[7,34,48,71,93,102,164,184,195,220],"with":[8,35,72,103,124,165],"Down's":[9],"syndrome(DS)who":[10],"have":[11,222],"been":[12],"finally":[13,69],"diagnosed":[14,70,198],"in":[15,136,141,185],"our":[16,137,186],"hospital.To":[17],"compare":[18,82],"strengths":[20],"of":[21,43,46,67,85,88,126,145,157,181,214],"G-banding":[22,59,148,170,201],"analysis":[24,61,150,172],"and":[25,39,130,147,173,226],"FISH(Fluorescence":[26],"In":[27],"Situ":[28],"Hybridization,":[29],"FISH)in":[30],"diagnosing":[31],"DS":[33,55,92,163,183],"Chromosome":[37],"mosaicism":[38,75,132,168],"Calculating":[40],"percentage":[42,84],"abnormal":[44,86,159,216],"karyotypes.Methods:Blood":[45],"who":[49,221],"were":[50,76,94,111,119,151],"likely":[51],"to":[52,62,81,207,210],"suffer":[53],"from":[54],"was":[56,134,139,153],"selected":[57,78],"for":[58,79,113,162,218],"describe":[63],"distribution.5":[66],"chromosome":[74,167],"randomly":[77],"FISH":[80,146,209],"karyotypes":[87],"two":[90],"methods.Results:287":[91],"diagnosed,91.29%of":[95],"whom":[96],"had":[97],"simple":[99,175],"karyotype.Among":[100],"translocation":[105,109,117,128,189],"karyotype,":[106],"11":[107],"D/G":[108,191],"detected,accounting":[112],"73.33%,while":[114],"4":[115],"G/G":[116],"diagnosed,":[120],"constituting":[121],"26.67%.One":[122],"patient":[123],"both":[125],"detected":[135],"research,which":[138],"uncommon":[140],"recent":[142],"report.The":[143],"results":[144],"consistent.There":[152],"no":[154],"significant":[155],"difference":[156],"rates":[161],"by":[169,200],"FISH.Conclusion:The":[174],"is":[177,193],"main":[179],"research.Among":[187],"karyotype,the":[190],"kind":[192],"common.DS":[194],"can":[196],"be":[197],"efficiently":[199],"analysis,but":[203],"we":[204],"still":[205],"suggest":[206],"use":[208],"get":[211],"proportion":[213],"cell":[217,225],"less":[223],"triploid":[224],"slighter":[227],"clinical":[228],"manifestation.":[229]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}
