{"id":"https://openalex.org/W1895299596","doi":"https://doi.org/10.1034/j.1399-0004.2002.610306.x","title":"De novo supernumerary ring chromosome 7: first report of a non\u2010mosaic patient and review of the literature","display_name":"De novo supernumerary ring chromosome 7: first report of a non\u2010mosaic patient and review of the literature","publication_year":2002,"publication_date":"2002-03-01","ids":{"openalex":"https://openalex.org/W1895299596","doi":"https://doi.org/10.1034/j.1399-0004.2002.610306.x","mag":"1895299596","pmid":"https://pubmed.ncbi.nlm.nih.gov/12000362"},"language":"en","primary_location":{"id":"doi:10.1034/j.1399-0004.2002.610306.x","doi":"https://doi.org/10.1034/j.1399-0004.2002.610306.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.2002.610306.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical 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":"https://openalex.org/A5013030170","display_name":"Gopalrao V.N. Velagaleti","orcid":"https://orcid.org/0000-0003-2811-8185","observed_orcids":["https://orcid.org/0000-0003-2811-8185"]},"institutions":[{"id":"https://openalex.org/I55302922","display_name":"The University of Texas Medical Branch at Galveston","ror":"https://ror.org/016tfm930","country_code":"US","type":"education","lineage":["https://openalex.org/I55302922"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"GVN Velagaleti","raw_affiliation_strings":["Departments of Pediatrics and Pathology, University of Texas Medical Branch, Galveston, TX USA. govelaga@utmb.edu","Departments of Pediatrics and Pathology, University of Texas Medical Branch, Galveston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Pathology, University of Texas Medical Branch, Galveston, TX USA. govelaga@utmb.edu","institution_ids":["https://openalex.org/I55302922"]},{"raw_affiliation_string":"Departments of Pediatrics and Pathology, University of Texas Medical Branch, Galveston, TX, USA","institution_ids":["https://openalex.org/I55302922"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111921408","display_name":"S. M. Jalal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"SM Jalal","raw_affiliation_strings":["Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010112536","display_name":"MK Kukolich","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I12315562","display_name":"Texas Tech University","ror":"https://ror.org/0405mnx93","country_code":"US","type":"education","lineage":["https://openalex.org/I12315562"]},{"id":"https://openalex.org/I4210090149","display_name":"Cook Children's Medical Center","ror":"https://ror.org/009z5t729","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210090149","https://openalex.org/I4210102753"]},{"id":"https://openalex.org/I926076166","display_name":"Texas Tech University Health Sciences Center","ror":"https://ror.org/033ztpr93","country_code":"US","type":"education","lineage":["https://openalex.org/I926076166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"MK Kukolich","raw_affiliation_strings":["Cook Children's Clinical Genetics Service, Fort Worth, TX, USA","Departments of Pediatrics and Pathology, University of Texas Tech Health Sciences Center, Lubbock, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cook Children's Clinical Genetics Service, Fort Worth, TX, USA","institution_ids":["https://openalex.org/I4210090149"]},{"raw_affiliation_string":"Departments of Pediatrics and Pathology, University of Texas Tech Health Sciences Center, Lubbock, TX, USA","institution_ids":["https://openalex.org/I12315562","https://openalex.org/I926076166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113954066","display_name":"Lillian H. Lockhart","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55302922","display_name":"The University of Texas Medical Branch at Galveston","ror":"https://ror.org/016tfm930","country_code":"US","type":"education","lineage":["https://openalex.org/I55302922"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"LH Lockhart","raw_affiliation_strings":["Departments of Pediatrics and Pathology, University of Texas Medical Branch, Galveston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Pathology, University of Texas Medical Branch, Galveston, TX, USA","institution_ids":["https://openalex.org/I55302922"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109939352","display_name":"Vijay S. Tonk","orcid":"https://orcid.org/0000-0001-6870-2461","observed_orcids":["https://orcid.org/0000-0001-6870-2461"]},"institutions":[{"id":"https://openalex.org/I12315562","display_name":"Texas Tech University","ror":"https://ror.org/0405mnx93","country_code":"US","type":"education","lineage":["https://openalex.org/I12315562"]},{"id":"https://openalex.org/I926076166","display_name":"Texas Tech University Health Sciences Center","ror":"https://ror.org/033ztpr93","country_code":"US","type":"education","lineage":["https://openalex.org/I926076166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"VS Tonk","raw_affiliation_strings":["Departments of Pediatrics and Pathology, University of Texas Tech Health Sciences Center, Lubbock, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Pathology, University of Texas Tech Health Sciences Center, Lubbock, TX, USA","institution_ids":["https://openalex.org/I12315562","https://openalex.org/I926076166"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":0.8835,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.72946073,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"61","issue":"3","first_page":"202","last_page":"206"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9970999956130981,"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":0.9970999956130981,"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":0.0012000000569969416,"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":0.00019999999494757503,"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/partial-trisomy","display_name":"partial trisomy","score":0.8180000185966492},{"id":"https://openalex.org/keywords/partial-monosomy","display_name":"partial monosomy","score":0.9980000257492065},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9869999885559082},{"id":"https://openalex.org/keywords/speech-problems","display_name":"speaking difficulties","score":0.925000011920929},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.9449999928474426},{"id":"https://openalex.org/keywords/ear-anomalies","display_name":"ear anomalies","score":0.7689999938011169},{"id":"https://openalex.org/keywords/ocular-abnormalities","display_name":"ocular abnormalities","score":0.8600000143051147},{"id":"https://openalex.org/keywords/skin-lesions","display_name":"skin lesions","score":0.8600000143051147},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7099999785423279},{"id":"https://openalex.org/keywords/growth-retardation","display_name":"growth retardation","score":0.6899999976158142}],"concepts":[{"id":"https://openalex.org/C2781034694","wikidata":"https://www.wikidata.org/wiki/Q474261","display_name":"Ring chromosome","level":5,"score":0.8927273750305176},{"id":"https://openalex.org/C2780610479","wikidata":"https://www.wikidata.org/wiki/Q7644068","display_name":"Supernumerary","level":2,"score":0.8311679363250732},{"id":"https://openalex.org/C4169854","wikidata":"https://www.wikidata.org/wiki/Q7543590","display_name":"Small supernumerary marker chromosome","level":5,"score":0.8038030862808228},{"id":"https://openalex.org/C2779142324","wikidata":"https://www.wikidata.org/wiki/Q3321288","display_name":"Monosomy","level":5,"score":0.7233814001083374},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5286935567855835},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5093005895614624},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.5010464191436768},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.49691417813301086},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.45930561423301697},{"id":"https://openalex.org/C130773972","wikidata":"https://www.wikidata.org/wiki/Q904181","display_name":"Marker chromosome","level":5,"score":0.4307776987552643},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.4215444028377533},{"id":"https://openalex.org/C24144980","wikidata":"https://www.wikidata.org/wiki/Q780468","display_name":"Chromosome 18","level":4,"score":0.4147722125053406},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.2677857279777527},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","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":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012303","descriptor_name":"Ring Chromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","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:10.1034/j.1399-0004.2002.610306.x","doi":"https://doi.org/10.1034/j.1399-0004.2002.610306.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.2002.610306.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:12000362","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12000362","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":"Clinical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.5199999809265137,"id":"https://metadata.un.org/sdg/4","display_name":"Quality education"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":17,"referenced_works":["https://openalex.org/W1560810881","https://openalex.org/W1704952980","https://openalex.org/W1792586578","https://openalex.org/W1968691114","https://openalex.org/W1969718428","https://openalex.org/W1990448513","https://openalex.org/W2003382486","https://openalex.org/W2009826855","https://openalex.org/W2021617920","https://openalex.org/W2025373802","https://openalex.org/W2031798002","https://openalex.org/W2061233691","https://openalex.org/W2061676483","https://openalex.org/W2108664713","https://openalex.org/W2129265938","https://openalex.org/W2158463867","https://openalex.org/W4234287515"],"related_works":["https://openalex.org/W2018597975","https://openalex.org/W2088243462","https://openalex.org/W2104140914","https://openalex.org/W2115577576","https://openalex.org/W2061233691","https://openalex.org/W7098020130","https://openalex.org/W2010611301","https://openalex.org/W2158463867","https://openalex.org/W2066877095","https://openalex.org/W2006962316"],"abstract_inverted_index":{"The":[0,167],"present":[1,168],"authors":[2],"report":[3],"the":[4,29,84,98,146,171],"case":[5,173],"of":[6,28,34,83,94,101,149,174],"a":[7,10,32,51,59,73,77,130,142,175],"12-year-old-boy":[8],"with":[9,19,37,50,58,76,123,135],"de":[11,176],"novo,":[12,177],"non-mosaic":[13,178],"supernumerary":[14,61,157,179],"ring":[15,38,62,79,150,180],"chromosome":[16,63,80,151,181],"7":[17,40,64,87],"associated":[18],"significant":[20],"developmental":[21],"delay":[22],"and":[23,69,110,113,118],"speech":[24,127],"difficulty.":[25],"A":[26,92],"review":[27],"literature":[30],"identified":[31],"total":[33],"18":[35],"cases":[36,148],"chromosomes":[39,57,86],"who":[41],"can":[42],"be":[43],"classified":[44],"into":[45],"two":[46,99],"groups:":[47],"(1)":[48],"patients":[49,102,122,134],"cell":[52,74],"line":[53,75],"that":[54],"has":[55],"47":[56],"small":[60],"resulting":[65,88],"in":[66,89,97],"partial":[67,90,124,136],"trisomy;":[68],"(2)":[70],"individuals":[71],"had":[72],"large":[78],"replacing":[81],"one":[82],"normal":[85,159],"monosomy.":[91],"comparison":[93],"clinical":[95],"features":[96,106],"groups":[100],"showed":[103],"several":[104],"common":[105],"such":[107],"as":[108,129,141],"growth":[109],"mental":[111],"retardation,":[112],"facial":[114],"dysmorphism,":[115],"including,":[116],"ear":[117],"eye":[119],"anomalies.":[120],"However,":[121],"trisomy":[125],"have":[126,138],"difficulty":[128],"distinguishing":[131],"feature,":[132],"while":[133],"monosomy":[137],"skin":[139],"lesions":[140],"cardinal":[143],"feature.":[144],"All":[145],"published":[147],"7,":[152],"irrespective":[153],"whether":[154],"they":[155],"are":[156,162],"or":[158],"modal":[160],"number,":[161],"mosaics":[163],"except":[164],"for":[165],"one.":[166],"subject":[169],"is":[170],"first":[172],"7.":[182]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}