{"id":"https://openalex.org/W2144606594","doi":null,"title":"A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant","display_name":"A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant","publication_year":2014,"publication_date":"2014-12-25","ids":{"openalex":"https://openalex.org/W2144606594","mag":"2144606594"},"language":"en","primary_location":{"id":"pmh:oai:CiteSeerX.psu:10.1.1.1017.309","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1017.309","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.najms.com/index.php/najms/article/download/19/16/","raw_type":"text"},"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":null,"display_name":"Deling Li","orcid":"https://orcid.org/0000-0002-4300-7136","observed_orcids":["https://orcid.org/0000-0002-4300-7136"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Deling Li","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-4300-7136","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5110208252","display_name":"Yao\u2010Shan Fan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yao\u2010Shan Fan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"7","issue":"4","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9994999766349792,"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":0.9994999766349792,"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/T11642","display_name":"Genomics and Rare Diseases","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"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0,"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/tetralogy-of-fallot","display_name":"tetralogy of Fallot","score":0.9169999957084656},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.9629999995231628},{"id":"https://openalex.org/keywords/hypertelorism","display_name":"hypertelorism","score":0.7379999756813049},{"id":"https://openalex.org/keywords/micrognathia","display_name":"micrognathia","score":0.9070000052452087},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.6840000152587891},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.8659999966621399},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8450000286102295},{"id":"https://openalex.org/keywords/newborns","display_name":"neonates","score":0.5130000114440918}],"concepts":[{"id":"https://openalex.org/C2776984250","wikidata":"https://www.wikidata.org/wiki/Q10329580","display_name":"Microdeletion syndrome","level":4,"score":0.8422325849533081},{"id":"https://openalex.org/C2779286207","wikidata":"https://www.wikidata.org/wiki/Q1641128","display_name":"Hypertelorism","level":2,"score":0.8183209896087646},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.6487789154052734},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6180996894836426},{"id":"https://openalex.org/C2911046722","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Muscle Hypotonia","level":3,"score":0.58713698387146},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.5869626998901367},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5562336444854736},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.533652126789093},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.5192120671272278},{"id":"https://openalex.org/C2910535243","wikidata":"https://www.wikidata.org/wiki/Q5113922","display_name":"Chromosomal region","level":4,"score":0.4500444829463959},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.43252798914909363},{"id":"https://openalex.org/C2778646171","wikidata":"https://www.wikidata.org/wiki/Q445307","display_name":"Tetralogy of Fallot","level":3,"score":0.4188094735145569},{"id":"https://openalex.org/C124942203","wikidata":"https://www.wikidata.org/wiki/Q656638","display_name":"Comparative genomic hybridization","level":4,"score":0.4115593433380127},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34827709197998047},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22434258460998535},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1885075867176056},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.1813308596611023},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.12735515832901}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:CiteSeerX.psu:10.1.1.1017.309","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1017.309","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.najms.com/index.php/najms/article/download/19/16/","raw_type":"text"},{"id":"mag:2144606594","doi":null,"is_oa":false,"landing_page_url":"https://najms.com/index.php/najms/article/view/19","pdf_url":null,"source":{"id":"https://openalex.org/S2764345460","display_name":"North American Journal of Medicine and Science","issn_l":"1946-9357","issn":["1946-9357","2156-2342"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310315546","host_organization_name":"Exeley Inc","host_organization_lineage":["https://openalex.org/P4310315546"],"host_organization_lineage_names":["Exeley Inc"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"North American Journal of Medicine and Science","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W1964523379","https://openalex.org/W1968667574","https://openalex.org/W1975706205","https://openalex.org/W1981784854","https://openalex.org/W1982145351","https://openalex.org/W1996261165","https://openalex.org/W2000331614","https://openalex.org/W2010746841","https://openalex.org/W2012464933","https://openalex.org/W2014409330","https://openalex.org/W2022522821","https://openalex.org/W2045325156","https://openalex.org/W2052712750","https://openalex.org/W2098380802","https://openalex.org/W2102138832","https://openalex.org/W2106982327","https://openalex.org/W2119907069","https://openalex.org/W2121185773","https://openalex.org/W2124475496","https://openalex.org/W2147267986","https://openalex.org/W2159327693","https://openalex.org/W2161431306"],"related_works":["https://openalex.org/W2161431306","https://openalex.org/W2171696376","https://openalex.org/W2113039372","https://openalex.org/W3000350931","https://openalex.org/W2124475496","https://openalex.org/W1982145351","https://openalex.org/W7099618814","https://openalex.org/W2102138832","https://openalex.org/W2045325156","https://openalex.org/W7140245914"],"abstract_inverted_index":{"Recurrent":[0],"deletions":[1,27],"of":[2,15,28,37,113,127],"the":[3,12,78,85,107,114],"chromosomal":[4],"region":[5,36,112],"15q24":[6,26,68,115],"have":[7,74],"recently":[8],"been":[9,75],"identified":[10,119],"as":[11],"underlying":[13],"cause":[14],"a":[16,32,67,97,102,134],"novel":[17],"microdeletion":[18],"syndrome.":[19],"A":[20],"recent":[21],"study":[22],"comparing":[23],"patients":[24,65],"with":[25,66,101],"variable":[29],"size":[30],"defined":[31],"minimum":[33],"critical":[34,111],"deletion":[35,69,105,116,145],"1.7":[38,109],"Mb.":[39],"The":[40,123,142],"corresponding":[41],"clinical":[42],"phenotype":[43,87],"includes":[44],"intellectual":[45],"disability,":[46],"developmental":[47],"delay,":[48],"muscle":[49],"hypotonia,":[50],"dysmorphic":[51,130],"facial":[52,131],"features,":[53],"skeletal":[54],"anomalies,":[55],"cardiac":[56],"defects,":[57],"and":[58,129,140],"male":[59],"genital":[60],"anomalies.":[61],"To":[62],"date,":[63],"34":[64],"based":[70],"on":[71],"array":[72,121],"CGH":[73],"reported":[76,108],"in":[77],"medical":[79],"literature.":[80],"Little":[81],"is":[82],"known":[83,148],"about":[84],"genotype":[86],"correlation":[88],"for":[89],"this":[90],"genomic":[91],"region.":[92],"Case":[93],"Report:":[94],"We":[95],"report":[96],"female":[98],"newborn":[99],"infant":[100,124],"420":[103,143],"Kb":[104,144],"within":[106],"Mb":[110],"that":[117],"was":[118],"by":[120],"CGH.":[122],"had":[125],"tetralogy":[126],"Fallot":[128],"features":[132],"including":[133],"flat":[135],"nasal":[136],"bridge,":[137],"hypertelorism,":[138],"retro-":[139],"micrognathia.":[141],"included":[146],"11":[147],"genes:":[149],"COMMD4,":[150]},"counts_by_year":[{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}