{"id":"https://openalex.org/W25543864","doi":null,"title":"A de novo deletion in X 27-28 spans at least 3 megabases and results in fragile X syndrome","display_name":"A de novo deletion in X 27-28 spans at least 3 megabases and results in fragile X syndrome","publication_year":1994,"publication_date":"1994-07-15","ids":{"openalex":"https://openalex.org/W25543864","mag":"25543864"},"language":"en","primary_location":{"id":"mag:25543864","doi":null,"is_oa":false,"landing_page_url":"http://www.osti.gov/scitech/biblio/62062-de-novo-deletion-spans-least-megabases-results-fragile-syndrome","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":null},"volume":null,"type":"article","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/A5027901614","display_name":"Ave M. Lachiewicz","orcid":"https://orcid.org/0000-0002-2934-3088","observed_orcids":["https://orcid.org/0000-0002-2934-3088"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ave M. Lachiewicz","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-2934-3088","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108533211","display_name":"Kathleen Rao","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kathleen Rao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074943865","display_name":"Arthur S. Aylsworth","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Arthur S. Aylsworth","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004849391","display_name":"Renee Richie","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Renee Richie","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","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":[],"countries":[],"is_corresponding":false,"raw_author_name":"Charles E. Schwartz","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-7770-1943","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5012945520","display_name":"Jack C. Tarleton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jack Tarleton","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0031537,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"51","issue":"4","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9990000128746033,"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":0.9990000128746033,"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":0.000699999975040555,"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":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/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9789999723434448},{"id":"https://openalex.org/keywords/x-chromosome-deletion","display_name":"X chromosome deletion","score":0.5090000033378601},{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.578000009059906},{"id":"https://openalex.org/keywords/fragile-sites","display_name":"fragile sites","score":0.48500001430511475},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.6330000162124634},{"id":"https://openalex.org/keywords/physical-mapping","display_name":"physical mapping","score":0.6600000262260437},{"id":"https://openalex.org/keywords/contiguous-gene-deletion","display_name":"contiguous gene deletion","score":0.6389999985694885},{"id":"https://openalex.org/keywords/ids-gene","display_name":"IDS gene","score":0.3779999911785126}],"concepts":[{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.8200448155403137},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.631885826587677},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.5370563268661499},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4668126106262207},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44468581676483154},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.42726951837539673},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.42157113552093506}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:25543864","doi":null,"is_oa":false,"landing_page_url":"http://www.osti.gov/scitech/biblio/62062-de-novo-deletion-spans-least-megabases-results-fragile-syndrome","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"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":[{"id":"https://openalex.org/F4320319129","display_name":"International Diabetes Federation","ror":"https://ror.org/04t34tv83"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1987468173","https://openalex.org/W2083700082","https://openalex.org/W1595039103","https://openalex.org/W2011932032","https://openalex.org/W2124599891","https://openalex.org/W2102604100","https://openalex.org/W7214166143","https://openalex.org/W1989326324","https://openalex.org/W1987491880","https://openalex.org/W1995301544"],"abstract_inverted_index":{"A":[0],"2-year-old":[1],"boy":[2],"with":[3,98],"Martin-Bell":[4],"syndrome":[5,101,205],"was":[6,22,63,68,77,82],"referred":[7],"for":[8,33],"molecular":[9],"testing":[10],"and":[11,41],"found":[12,23],"to":[13,24,43,47,57,71,89,136,156,194],"have":[14,25,90],"a":[15],"large":[16],"deletion":[17,54,105,115,152,189,214],"of":[18,52,143,150,170,179,201],"FMRI.":[19],"His":[20],"mother":[21],"two":[26],"FMR-1":[27,195],"alleles":[28],"in":[29,116,129,167,212],"the":[30,49,53,58,72,104,122,140,147,151,171,188,202,213],"normal":[31],"range":[32],"CGG":[34],"repeats.":[35],"DNA":[36],"probes":[37],"located":[38],"both":[39],"proximal":[40],"distal":[42],"FRAXA":[44],"were":[45,134],"used":[46],"delineate":[48],"approximation":[50],"location":[51],"endpoints.":[55],"Proximal":[56],"fragile":[59,73,99,203],"site,":[60,74],"DXS312":[61],"(pX135)":[62],"absent":[64,78],"but":[65,79],"DXS98":[66],"(4D8)":[67],"present.":[69,83],"Distal":[70],"DXS296":[75],"(VK21)":[76],"DXS304":[80],"(U6.2)":[81],"Our":[84],"patient":[85,118,123,163,181],"does":[86,106],"not":[87,107],"appear":[88],"clinical":[91,184],"findings":[92,185],"other":[93,109,191,209],"than":[94,121],"those":[95],"typically":[96],"associated":[97],"X":[100,204],"suggesting":[102,206],"that":[103,187,207],"remove":[108],"contiguous":[110],"genes,":[111],"e.g.,":[112],"IDS.":[113],"The":[114],"this":[117,180],"is":[119],"larger":[120],"reported":[124],"by":[125],"Gedeon":[126],"et":[127,145],"al.,":[128,146],"whom":[130],"approximately":[131],"2.5":[132],"megabases":[133],"estimated":[135,155],"be":[137,154,157,165],"deleted.":[138],"Using":[139],"physical":[141,148,168],"map":[142],"Schlessinger":[144],"extent":[149],"can":[153],"at":[158],"least":[159],"3":[160],"megabases.":[161],"This":[162],"may":[164,182],"useful":[166],"mapping":[169],"chromosomal":[172],"region":[173],"near":[174,193],"FMR-1.":[175],"Continued":[176],"long-term":[177],"evaluation":[178],"uncover":[183],"suggestive":[186],"removes":[190],"genes":[192,210],"or,":[196],"alternatively,":[197],"no":[198,208],"findingsmore\u00a0\u00bb":[199],"atypical":[200],"lie":[211],"interval.\u00ab\u00a0less":[215]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}
