{"id":"https://openalex.org/W2468720854","doi":null,"title":"Constitutional tetrasomy 18p.","display_name":"Constitutional tetrasomy 18p.","publication_year":2006,"publication_date":"2006-04-01","ids":{"openalex":"https://openalex.org/W2468720854","mag":"2468720854","pmid":"https://pubmed.ncbi.nlm.nih.gov/16651677"},"language":"en","primary_location":{"id":"pmid:16651677","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16651677","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":"Indian pediatrics","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5015632539","display_name":"Sonal Rajiv Bakshi","orcid":"https://orcid.org/0000-0002-1755-3352","observed_orcids":["https://orcid.org/0000-0002-1755-3352"]},"institutions":[{"id":"https://openalex.org/I135230010","display_name":"Gujarat Cancer & Research Institute","ror":"https://ror.org/015bxyv30","country_code":"IN","type":"facility","lineage":["https://openalex.org/I135230010"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"S R Bakshi","raw_affiliation_strings":["Cell Biology Division, Department of Cancer Biology, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad 380 016, India. gcriad1@sancharnet.in","Cell Biology Division, Department of Cancer Biology, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad 380 016, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cell Biology Division, Department of Cancer Biology, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad 380 016, India. gcriad1@sancharnet.in","institution_ids":["https://openalex.org/I135230010"]},{"raw_affiliation_string":"Cell Biology Division, Department of Cancer Biology, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad 380 016, India","institution_ids":["https://openalex.org/I135230010"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112187321","display_name":"MM Brahmbhatt","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M M Brahmbhatt","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011874918","display_name":"Trivedi Pj","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P J Trivedi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5036715295","display_name":"Ilse Chudoba","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I Chudoba","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1537,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.53470508,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":96},"biblio":{"volume":"43","issue":"4","first_page":"357","last_page":"60"},"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":0.0008999999845400453,"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/T10434","display_name":"Chromosomal and Genetic Variations","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/marker-chromosomes","display_name":"marker chromosomes","score":0.6480000019073486},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.6859999895095825},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.921999990940094},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.9869999885559082},{"id":"https://openalex.org/keywords/multiplex-fluorescence-in-situ-hybridization","display_name":"multiplex fluorescence in situ hybridization","score":0.5270000100135803},{"id":"https://openalex.org/keywords/m-band","display_name":"M-band","score":0.7260000109672546},{"id":"https://openalex.org/keywords/paternal-transmission","display_name":"paternal transmission","score":0.33799999952316284}],"concepts":[{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.882411003112793},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8341709971427917},{"id":"https://openalex.org/C2778249689","wikidata":"https://www.wikidata.org/wiki/Q906664","display_name":"Tetrasomy","level":5,"score":0.7175185680389404},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5734477043151855},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5250656008720398},{"id":"https://openalex.org/C2776194465","wikidata":"https://www.wikidata.org/wiki/Q31184","display_name":"Sibling","level":2,"score":0.5084468126296997},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.44787389039993286},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3473641574382782},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.23033681511878967},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.1082773208618164},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08839109539985657},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.06896418333053589},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002871","descriptor_name":"Chromosome Banding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002887","descriptor_name":"Chromosomes, Human, Pair 18","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D007223","descriptor_name":"Infant","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":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018404","descriptor_name":"Isochromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":1,"locations":[{"id":"pmid:16651677","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16651677","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":"Indian pediatrics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.46810001134872437}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W2028806381","https://openalex.org/W2040829367","https://openalex.org/W2130724792","https://openalex.org/W4230770692"],"related_works":["https://openalex.org/W2215610025","https://openalex.org/W2058151556","https://openalex.org/W2322365815","https://openalex.org/W2270731519","https://openalex.org/W2310315063","https://openalex.org/W63622063","https://openalex.org/W1530318287","https://openalex.org/W106023024","https://openalex.org/W7071612067","https://openalex.org/W3186591035"],"abstract_inverted_index":{"We":[0],"present":[1],"here":[2],"the":[3,46],"first":[4],"case":[5],"of":[6,45,54],"constitutional":[7],"tetrasomy":[8],"18p":[9],"from":[10],"India.":[11],"A":[12],"3":[13],"year":[14],"old":[15],"female":[16],"with":[17,35],"developmental":[18],"delay":[19],"and":[20,41,57],"dysmorphic":[21,58],"features":[22,59],"revealed":[23,48],"47,XX,+mar":[24],"karyotype.":[25,50],"The":[26],"small":[27],"meta-centric":[28],"marker":[29],"chromosome":[30],"was":[31,52,69],"identified":[32],"as":[33],"i(18p)":[34],"m-FISH":[36],"followed":[37],"by":[38],"m-BAND.":[39],"Parents":[40],"a":[42],"normal":[43,49],"sibling":[44],"proband":[47],"There":[51],"history":[53],"mental":[55],"retardation":[56],"in":[60],"four":[61],"cases":[62],"on":[63],"paternal":[64],"side;":[65],"however,":[66],"their":[67],"karyotype":[68],"also":[70],"normal.":[71]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-07-22T00:00:00"}