{"id":"https://openalex.org/W2156808919","doi":"https://doi.org/10.1136/jmg.29.10.726","title":"Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.","display_name":"Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.","publication_year":1992,"publication_date":"1992-10-01","ids":{"openalex":"https://openalex.org/W2156808919","doi":"https://doi.org/10.1136/jmg.29.10.726","mag":"2156808919","pmid":"https://pubmed.ncbi.nlm.nih.gov/1359145","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1016132"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.29.10.726","doi":"https://doi.org/10.1136/jmg.29.10.726","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.29.10.726","pdf_url":"https://jmg.bmj.com/content/jmedgenet/29/10/726.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/29/10/726.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5012945520","display_name":"Jack C. Tarleton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J Tarleton","raw_affiliation_strings":["Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050076358","display_name":"S Wong","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S Wong","raw_affiliation_strings":["Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046614801","display_name":"Dominique Heitz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D Heitz","raw_affiliation_strings":["Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C Schwartz","raw_affiliation_strings":["Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646","institution_ids":["https://openalex.org/I4210149064"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210149064"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.17241561,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"29","issue":"10","first_page":"726","last_page":"729"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9976000189781189,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9976000189781189,"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":0.0007999999797903001,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0005000000237487257,"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/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/xq27-3","display_name":"Xq27.3","score":0.9380000233650208},{"id":"https://openalex.org/keywords/genetic-recombination","display_name":"genetic recombination","score":0.9229999780654907},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.6830000281333923},{"id":"https://openalex.org/keywords/dna-instability","display_name":"DNA instability","score":0.6470000147819519}],"concepts":[{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.9069985151290894},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.783701479434967},{"id":"https://openalex.org/C60449816","wikidata":"https://www.wikidata.org/wiki/Q5113903","display_name":"Chromosomal fragile site","level":4,"score":0.7760818004608154},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7119815349578857},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.6567233800888062},{"id":"https://openalex.org/C168007829","wikidata":"https://www.wikidata.org/wiki/Q857299","display_name":"Restriction fragment length polymorphism","level":4,"score":0.5859135389328003},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.530469536781311},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.527150571346283},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.5228667259216309},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.5157625675201416},{"id":"https://openalex.org/C156695909","wikidata":"https://www.wikidata.org/wiki/Q3373825","display_name":"Recombination","level":3,"score":0.45148709416389465},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2164825201034546},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.17408958077430725},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.08222371339797974},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.07414045929908752},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.06642597913742065}],"mesh":[{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015342","descriptor_name":"DNA Probes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1136/jmg.29.10.726","doi":"https://doi.org/10.1136/jmg.29.10.726","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.29.10.726","pdf_url":"https://jmg.bmj.com/content/jmedgenet/29/10/726.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1016132","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1016132","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Med Genet","raw_type":"Text"},{"id":"pmid:1359145","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1359145","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":"Journal of medical genetics","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1136/jmg.29.10.726","doi":"https://doi.org/10.1136/jmg.29.10.726","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.29.10.726","pdf_url":"https://jmg.bmj.com/content/jmedgenet/29/10/726.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"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/W2156808919.pdf","grobid_xml":"https://content.openalex.org/works/W2156808919.grobid-xml"},"referenced_works_count":9,"referenced_works":["https://openalex.org/W41880118","https://openalex.org/W1989187665","https://openalex.org/W2002780348","https://openalex.org/W2051013729","https://openalex.org/W2102858539","https://openalex.org/W2149919973","https://openalex.org/W2162778136","https://openalex.org/W2326122757","https://openalex.org/W4253129203"],"related_works":["https://openalex.org/W2008544149","https://openalex.org/W2336616868","https://openalex.org/W2013019885","https://openalex.org/W2018789634","https://openalex.org/W2022315499","https://openalex.org/W1983864083","https://openalex.org/W2109787799","https://openalex.org/W41880118","https://openalex.org/W2326122757","https://openalex.org/W2409146731"],"abstract_inverted_index":{"Genetic":[0],"recombination":[1,48],"near":[2],"the":[3,20,29,74,78,81],"fragile":[4,21,37,75,82],"X":[5,22,38,76,83],"locus":[6],"(Xq27.3)":[7],"has":[8],"frequently":[9],"been":[10],"a":[11,32,36,61,88],"problem":[12],"in":[13,18,35,73,87],"linkage":[14],"studies":[15,43],"of":[16,31,70,80],"families":[17],"which":[19],"is":[23],"segregating.":[24],"This":[25],"case":[26],"report":[27],"illustrates":[28],"resolution":[30],"difficult":[33],"situation":[34],"family":[39],"for":[40,67],"whom":[41],"cytogenetic":[42],"were":[44],"inconclusive":[45],"and":[46],"where":[47],"had":[49],"twice":[50],"confounded":[51],"attempts":[52],"at":[53],"prenatal":[54,89],"DNA":[55,64,71,90],"diagnosis":[56],"by":[57],"RFLP":[58],"analysis.":[59],"Using":[60],"newly":[62],"developed":[63],"probe,":[65],"StB12.3,":[66],"direct":[68],"detection":[69],"instability":[72],"locus,":[77],"presence":[79],"was":[84],"ascertained":[85],"definitively":[86],"sample.":[91]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
