{"id":"https://openalex.org/W1989544273","doi":"https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","title":"Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?","display_name":"Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?","publication_year":1996,"publication_date":"1996-05-17","ids":{"openalex":"https://openalex.org/W1989544273","doi":"https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","mag":"1989544273","pmid":"https://pubmed.ncbi.nlm.nih.gov/8725788"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","doi":"https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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":"Angela Brown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1283654650","display_name":"Prisma Health","ror":"https://ror.org/03n7vd314","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283654650"]},{"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"]},{"id":"https://openalex.org/I8078737","display_name":"Clemson University","ror":"https://ror.org/037s24f05","country_code":"US","type":"education","lineage":["https://openalex.org/I8078737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Angela Brown","raw_affiliation_strings":["Greenwood Genetic Center, South Carolina 29646, USA","Department of Biological Sciences, Clemson University, Clemson, Greenville Hospital System, Greenville, South Carolina","Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, South Carolina 29646, USA","institution_ids":["https://openalex.org/I4210149064"]},{"raw_affiliation_string":"Department of Biological Sciences, Clemson University, Clemson, Greenville Hospital System, Greenville, South Carolina","institution_ids":["https://openalex.org/I1283654650","https://openalex.org/I8078737"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113636895","display_name":"Mary C. Phelan","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":"Mary C. Phelan","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111669651","display_name":"Shivanand R. Patil","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shivanand Patil","raw_affiliation_strings":["Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, Iowa"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Medical Genetics, University of Iowa, Iowa City, Iowa","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102164330","display_name":"Eric C. Crawford","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":"Eric Crawford","raw_affiliation_strings":["Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101543110","display_name":"R. Curtis Rogers","orcid":"https://orcid.org/0000-0002-0938-4608","observed_orcids":["https://orcid.org/0000-0002-0938-4608"]},"institutions":[{"id":"https://openalex.org/I1283654650","display_name":"Prisma Health","ror":"https://ror.org/03n7vd314","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283654650"]},{"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"]},{"id":"https://openalex.org/I8078737","display_name":"Clemson University","ror":"https://ror.org/037s24f05","country_code":"US","type":"education","lineage":["https://openalex.org/I8078737"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. Curtis Rogers","raw_affiliation_strings":["Department of Biological Sciences, Clemson University, Clemson, Greenville Hospital System, Greenville, South Carolina","Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, Clemson University, Clemson, Greenville Hospital System, Greenville, South Carolina","institution_ids":["https://openalex.org/I1283654650","https://openalex.org/I8078737"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina","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/I1283654650","display_name":"Prisma Health","ror":"https://ror.org/03n7vd314","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1283654650"]},{"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"]},{"id":"https://openalex.org/I8078737","display_name":"Clemson University","ror":"https://ror.org/037s24f05","country_code":"US","type":"education","lineage":["https://openalex.org/I8078737"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Charles Schwartz","raw_affiliation_strings":["Department of Biological Sciences, Clemson University, Clemson, Greenville Hospital System, Greenville, South Carolina","Greenwood Genetic Center, Greenwood, South Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, Clemson University, Clemson, Greenville Hospital System, Greenville, South Carolina","institution_ids":["https://openalex.org/I1283654650","https://openalex.org/I8078737"]},{"raw_affiliation_string":"Greenwood Genetic Center, Greenwood, South Carolina","institution_ids":["https://openalex.org/I4210149064"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5072815495"],"corresponding_institution_ids":["https://openalex.org/I1283654650","https://openalex.org/I4210149064","https://openalex.org/I8078737"],"apc_list":null,"apc_paid":null,"fwci":1.1591,"has_fulltext":false,"cited_by_count":33,"citation_normalized_percentile":{"value":0.75528829,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"63","issue":"2","first_page":"373","last_page":"377"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9976000189781189,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0006000000284984708,"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/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/17p11-2-duplication","display_name":"17p11.2 duplication","score":0.996999979019165},{"id":"https://openalex.org/keywords/smith-magenis-syndrome","display_name":"Smith-Magenis syndrome","score":0.9549999833106995},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9309999942779541},{"id":"https://openalex.org/keywords/hereditary-neuropathy-with-liability-to-pressure-palsies","display_name":"hereditary neuropathy with liability to pressure palsies","score":0.6150000095367432},{"id":"https://openalex.org/keywords/charcot-marie-tooth-disease-type-1a","display_name":"Charcot-Marie-Tooth disease type 1A","score":0.9079999923706055},{"id":"https://openalex.org/keywords/chromosomal-deletion","display_name":"chromosomal deletion","score":0.328000009059906}],"concepts":[{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.9303808212280273},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6364632248878479},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6031790375709534},{"id":"https://openalex.org/C35101798","wikidata":"https://www.wikidata.org/wiki/Q414491","display_name":"Cosmid","level":3,"score":0.5309868454933167},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5210320949554443},{"id":"https://openalex.org/C55548728","wikidata":"https://www.wikidata.org/wiki/Q1465102","display_name":"Gene dosage","level":4,"score":0.4985072612762451},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2200814187526703},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005810","descriptor_name":"Multigene Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","doi":"https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<373::aid-ajmg9>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:8725788","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8725788","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":"American journal of medical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"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":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W180397457","https://openalex.org/W181881221","https://openalex.org/W1970837473","https://openalex.org/W1972543680","https://openalex.org/W1973854533","https://openalex.org/W1978537030","https://openalex.org/W1984481433","https://openalex.org/W1991206310","https://openalex.org/W1994419835","https://openalex.org/W2025859952","https://openalex.org/W2027794853","https://openalex.org/W2029852943","https://openalex.org/W2043834026","https://openalex.org/W2064022931","https://openalex.org/W2066039534","https://openalex.org/W2067898377","https://openalex.org/W2080245876","https://openalex.org/W2082655166","https://openalex.org/W2087863486","https://openalex.org/W2091222259","https://openalex.org/W2103256993","https://openalex.org/W2144899009","https://openalex.org/W2197078261","https://openalex.org/W2252677418"],"related_works":["https://openalex.org/W271487018","https://openalex.org/W1517532080","https://openalex.org/W2017025188","https://openalex.org/W1527011972","https://openalex.org/W2098751344","https://openalex.org/W1975776584","https://openalex.org/W2106769281","https://openalex.org/W2086904040","https://openalex.org/W2075077955","https://openalex.org/W2062966951"],"abstract_inverted_index":{"J.M.":[0],"and":[1,44,112],"H.G.":[2],"are":[3],"two":[4],"unrelated":[5],"male":[6],"patients":[7],"with":[8,106],"developmental":[9],"delay.":[10],"Cytogenetic":[11],"analysis":[12,56],"detected":[13],"a":[14],"duplication":[15,66,85],"of":[16,23,37,57,81],"17p11.2":[17,82],"in":[18,52,67,86,103],"both":[19],"patients.":[20],"The":[21],"extent":[22],"the":[24,38,65,70,74,78,84,89,98],"duplicated":[25,47],"region":[26,80],"was":[27],"determined":[28],"using":[29,59],"single":[30],"copy":[31],"DNA":[32],"probes:":[33],"cen-D17S58-D17S29-D17S258-D17S71-D17S445-+":[34],"++D17S122-tel.":[35],"Four":[36],"six":[39],"markers,":[40],"D17S29,":[41,63],"D17S258,":[42],"D17S71,":[43],"D17S445,":[45],"were":[46],"by":[48],"dosage":[49],"analysis.":[50],"Fluorescent":[51],"situ":[53],"hybridization":[54],"(FISH)":[55],"H.G.,":[58],"cosmids":[60],"for":[61,97],"locus":[62],"confirmed":[64],"17p11.2.":[68],"Because":[69],"deletion":[71],"that":[72,95],"causes":[73],"Smith-Magnesis":[75],"syndrome":[76],"involves":[77],"same":[79],"as":[83],"these":[87],"patients,":[88],"mechanism":[90],"may":[91],"be":[92],"similar":[93],"to":[94,108],"proposed":[96],"reciprocal":[99],"deletion/duplication":[100],"event":[101],"observed":[102],"Hereditary":[104],"Neuropathy":[105],"Liability":[107],"Pressure":[109],"Palsies":[110],"(HNPP)":[111],"Charcot-Marie-Tooth":[113],"Type":[114],"1A":[115],"disease":[116],"(CMT1A).":[117]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
