{"id":"https://openalex.org/W7225640728","doi":"https://doi.org/10.1073/pnas.2625042123","title":"A Nasca-period perinatal burial reveals cyclopia associated with trisomy 13 in southern Peru","display_name":"A Nasca-period perinatal burial reveals cyclopia associated with trisomy 13 in southern Peru","publication_year":2026,"publication_date":"2026-11-09","ids":{"openalex":"https://openalex.org/W7225640728","doi":"https://doi.org/10.1073/pnas.2625042123","pmid":"https://pubmed.ncbi.nlm.nih.gov/43002675"},"language":"en","primary_location":{"id":"doi:10.1073/pnas.2625042123","doi":"https://doi.org/10.1073/pnas.2625042123","is_oa":true,"landing_page_url":"https://doi.org/10.1073/pnas.2625042123","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1073/pnas.2625042123","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000297490","display_name":"Elsa Tomasto-Cagigao","orcid":"https://orcid.org/0000-0002-5326-8102","observed_orcids":["https://orcid.org/0000-0002-5326-8102"]},"institutions":[{"id":"https://openalex.org/I65285256","display_name":"Pontificia Universidad Cat\u00f3lica del Per\u00fa","ror":"https://ror.org/00013q465","country_code":"PE","type":"education","lineage":["https://openalex.org/I65285256"]}],"countries":["PE"],"is_corresponding":false,"raw_author_name":"Elsa Tomasto-Cagigao","raw_affiliation_strings":["Departamento de Humanidades, Pontificia Universidad Cat\u00f3lica del Per\u00fa"],"raw_orcid":"https://orcid.org/0000-0002-5326-8102","affiliations":[{"raw_affiliation_string":"Departamento de Humanidades, Pontificia Universidad Cat\u00f3lica del Per\u00fa","institution_ids":["https://openalex.org/I65285256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072257210","display_name":"Markus Reindel","orcid":"https://orcid.org/0000-0003-1223-304X","observed_orcids":["https://orcid.org/0000-0003-1223-304X"]},"institutions":[{"id":"https://openalex.org/I2801380292","display_name":"Deutsches Arch\u00e4ologisches Institut, Zentrale","ror":"https://ror.org/041qv0h25","country_code":"DE","type":"facility","lineage":["https://openalex.org/I2801380292"]},{"id":"https://openalex.org/I4387152141","display_name":"Deutsches Arch\u00e4ologisches Institut, Kommission f\u00fcr Arch\u00e4ologie Au\u00dfereurop\u00e4ischer Kulturen","ror":"https://ror.org/02rspp784","country_code":"DE","type":"facility","lineage":["https://openalex.org/I2801380292","https://openalex.org/I4387152141"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Markus Reindel","raw_affiliation_strings":["Commission for Archaeology of Non-European Cultures, German Archaeological Institute"],"raw_orcid":"https://orcid.org/0000-0003-1223-304X","affiliations":[{"raw_affiliation_string":"Commission for Archaeology of Non-European Cultures, German Archaeological Institute","institution_ids":["https://openalex.org/I2801380292","https://openalex.org/I4387152141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032319294","display_name":"Johny Isla","orcid":"https://orcid.org/0000-0001-6164-8124","observed_orcids":["https://orcid.org/0000-0001-6164-8124"]},"institutions":[{"id":"https://openalex.org/I4210143384","display_name":"Ministry of Culture","ror":"https://ror.org/04gfk4b59","country_code":"PE","type":"government","lineage":["https://openalex.org/I4210143384"]}],"countries":["PE"],"is_corresponding":false,"raw_author_name":"Johny Isla Cuadrado","raw_affiliation_strings":["Nasca-Palpa Management Plan, Peruvian Ministry of Culture"],"raw_orcid":"https://orcid.org/0000-0001-6164-8124","affiliations":[{"raw_affiliation_string":"Nasca-Palpa Management Plan, Peruvian Ministry of Culture","institution_ids":["https://openalex.org/I4210143384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5161344931","display_name":"Mellisa Lund Valle","orcid":"https://orcid.org/0009-0002-8869-8281","observed_orcids":["https://orcid.org/0009-0002-8869-8281"]},"institutions":[{"id":"https://openalex.org/I65285256","display_name":"Pontificia Universidad Cat\u00f3lica del Per\u00fa","ror":"https://ror.org/00013q465","country_code":"PE","type":"education","lineage":["https://openalex.org/I65285256"]}],"countries":["PE"],"is_corresponding":false,"raw_author_name":"Mellisa Lund Valle","raw_affiliation_strings":["Departamento de Humanidades, Pontificia Universidad Cat\u00f3lica del Per\u00fa"],"raw_orcid":"https://orcid.org/0009-0002-8869-8281","affiliations":[{"raw_affiliation_string":"Departamento de Humanidades, Pontificia Universidad Cat\u00f3lica del Per\u00fa","institution_ids":["https://openalex.org/I65285256"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067451467","display_name":"Kalina Kassadjikova","orcid":"https://orcid.org/0000-0003-3365-6367","observed_orcids":["https://orcid.org/0000-0003-3365-6367"]},"institutions":[{"id":"https://openalex.org/I185103710","display_name":"University of California, Santa Cruz","ror":"https://ror.org/03s65by71","country_code":"US","type":"education","lineage":["https://openalex.org/I185103710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kalina Kassadjikova","raw_affiliation_strings":["Paleogenomics Lab, Department of Anthropology, Division of Social Sciences, University of California Santa Cruz"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Paleogenomics Lab, Department of Anthropology, Division of Social Sciences, University of California Santa Cruz","institution_ids":["https://openalex.org/I185103710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034957153","display_name":"Kelly M. Harkins","orcid":"https://orcid.org/0000-0002-0756-4250","observed_orcids":["https://orcid.org/0000-0002-0756-4250"]},"institutions":[{"id":"https://openalex.org/I185103710","display_name":"University of California, Santa Cruz","ror":"https://ror.org/03s65by71","country_code":"US","type":"education","lineage":["https://openalex.org/I185103710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kelly Harkins","raw_affiliation_strings":["Paleogenomics Lab, Department of Anthropology, Division of Social Sciences, University of California Santa Cruz"],"raw_orcid":"https://orcid.org/0000-0002-0756-4250","affiliations":[{"raw_affiliation_string":"Paleogenomics Lab, Department of Anthropology, Division of Social Sciences, University of California Santa Cruz","institution_ids":["https://openalex.org/I185103710"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001815861","display_name":"Lars Fehren\u2010Schmitz","orcid":"https://orcid.org/0000-0001-5510-1114","observed_orcids":["https://orcid.org/0000-0001-5510-1114"]},"institutions":[{"id":"https://openalex.org/I185103710","display_name":"University of California, Santa Cruz","ror":"https://ror.org/03s65by71","country_code":"US","type":"education","lineage":["https://openalex.org/I185103710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lars Fehren-Schmitz","raw_affiliation_strings":["Paleogenomics Lab, Department of Anthropology, Division of Social Sciences, University of California Santa Cruz","UCSC Genomics Institute, University of California Santa Cruz"],"raw_orcid":"https://orcid.org/0000-0001-5510-1114","affiliations":[{"raw_affiliation_string":"Paleogenomics Lab, Department of Anthropology, Division of Social Sciences, University of California Santa Cruz","institution_ids":["https://openalex.org/I185103710"]},{"raw_affiliation_string":"UCSC Genomics Institute, University of California Santa Cruz","institution_ids":["https://openalex.org/I185103710"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"123","issue":"46","first_page":"e2625042123","last_page":"e2625042123"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13409","display_name":"Paleopathology and ancient diseases","score":0.9653000235557556,"subfield":{"id":"https://openalex.org/subfields/1204","display_name":"Archeology (arts and humanities)"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},"topics":[{"id":"https://openalex.org/T13409","display_name":"Paleopathology and ancient diseases","score":0.9653000235557556,"subfield":{"id":"https://openalex.org/subfields/1204","display_name":"Archeology (arts and humanities)"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T10992","display_name":"Forensic Anthropology and Bioarchaeology Studies","score":0.027499999850988388,"subfield":{"id":"https://openalex.org/subfields/1204","display_name":"Archeology (arts and humanities)"},"field":{"id":"https://openalex.org/fields/12","display_name":"Arts and Humanities"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T10751","display_name":"Forensic and Genetic Research","score":0.0010000000474974513,"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/cyclopia","display_name":"cyclopia","score":0.996999979019165},{"id":"https://openalex.org/keywords/trisomy-13","display_name":"trisomy 13","score":1.0},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.7620000243186951},{"id":"https://openalex.org/keywords/nasca-culture","display_name":"Nasca culture","score":0.5910000205039978},{"id":"https://openalex.org/keywords/infant-burials","display_name":"infant burials","score":0.6809999942779541},{"id":"https://openalex.org/keywords/funerary-practices","display_name":"funerary practices","score":0.781000018119812},{"id":"https://openalex.org/keywords/ancient-dna","display_name":"ancient DNA","score":0.640999972820282},{"id":"https://openalex.org/keywords/chromosome-13","display_name":"chromosome 13","score":0.6819999814033508},{"id":"https://openalex.org/keywords/pottery-vessel","display_name":"ceramic vessel","score":0.41100001335144043}],"concepts":[{"id":"https://openalex.org/C2779491988","wikidata":"https://www.wikidata.org/wiki/Q1153284","display_name":"Cyclopia","level":5,"score":0.8651999831199646},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.6496999859809875},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3939000070095062},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3668000102043152},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31869998574256897},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3167000114917755},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.31310001015663147},{"id":"https://openalex.org/C2992981700","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disease","level":2,"score":0.30799999833106995},{"id":"https://openalex.org/C3019607859","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital malformations","level":3,"score":0.30720001459121704},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.2833999991416931},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.2808000147342682},{"id":"https://openalex.org/C2781374659","wikidata":"https://www.wikidata.org/wiki/Q1459821","display_name":"Holoprosencephaly","level":4,"score":0.2791000008583069},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.27469998598098755}],"mesh":[{"descriptor_ui":"D000073839","descriptor_name":"Trisomy 13 Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002048","descriptor_name":"Burial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002882","descriptor_name":"Chromosomes, Human, Pair 13","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005124","descriptor_name":"Eye Abnormalities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010568","descriptor_name":"Peru","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016142","descriptor_name":"Holoprosencephaly","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1073/pnas.2625042123","doi":"https://doi.org/10.1073/pnas.2625042123","is_oa":true,"landing_page_url":"https://doi.org/10.1073/pnas.2625042123","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},{"id":"pmid:43002675","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/43002675","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":"Proceedings of the National Academy of Sciences of the United States of America","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1073/pnas.2625042123","doi":"https://doi.org/10.1073/pnas.2625042123","is_oa":true,"landing_page_url":"https://doi.org/10.1073/pnas.2625042123","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"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/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320327333","display_name":"Pontificia Universidad Cat\u00f3lica del Per\u00fa","ror":"https://ror.org/00013q465"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W102403900","https://openalex.org/W798975820","https://openalex.org/W2036831673","https://openalex.org/W2045383404","https://openalex.org/W2083158774","https://openalex.org/W2085917144","https://openalex.org/W2097844391","https://openalex.org/W2804119723","https://openalex.org/W2890015810","https://openalex.org/W2916118128","https://openalex.org/W3160458952","https://openalex.org/W4206921422","https://openalex.org/W4285384442","https://openalex.org/W4390792544","https://openalex.org/W4391954008"],"related_works":["https://openalex.org/W2418683301","https://openalex.org/W4401197906","https://openalex.org/W2006292826","https://openalex.org/W2461041902","https://openalex.org/W3036837992","https://openalex.org/W2019417161","https://openalex.org/W253404985","https://openalex.org/W2049923444","https://openalex.org/W2214063586","https://openalex.org/W112040858"],"abstract_inverted_index":{"Cyclopia,":[0],"is":[1,18],"an":[2,66],"extremely":[3],"rare":[4],"congenital":[5,61,116],"condition":[6,117],"resulting":[7],"from":[8],"severe":[9,115],"disruption":[10],"of":[11,54,69,113],"early":[12],"brain":[13],"and":[14,17,49,105,118],"facial":[15],"development":[16],"typically":[19],"lethal":[20],"before":[21],"or":[22],"shortly":[23],"after":[24],"birth.":[25],"We":[26],"examined":[27],"two":[28,82],"infants":[29],"buried":[30],"together":[31,88],"in":[32,37,72,89,122],"a":[33,45,90,93,111,114,123],"Middle":[34],"Nasca-period":[35],"cemetery":[36],"Jauranga,":[38],"southern":[39],"Peru.":[40],"One":[41],"infant,":[42],"JA13A,":[43,73],"exhibited":[44],"single":[46],"median":[47],"orbit":[48],"other":[50],"skeletal":[51],"features":[52],"diagnostic":[53],"cyclopia,":[55],"whereas":[56],"JA13B":[57],"showed":[58],"no":[59],"comparable":[60],"variations.":[62],"Ancient":[63],"DNA":[64],"revealed":[65],"extra":[67],"copy":[68],"chromosome":[70],"13":[71,76],"identifying":[74],"trisomy":[75],"as":[77],"the":[78],"likely":[79],"cause.":[80],"The":[81],"maternally":[83],"unrelated":[84],"individuals":[85],"were":[86],"interred":[87],"ceramic":[91],"vessel,":[92],"mortuary":[94,120],"treatment":[95,121],"well":[96],"documented":[97],"for":[98],"Nasca":[99],"children.":[100],"By":[101],"integrating":[102],"skeletal,":[103],"genomic,":[104],"archaeological":[106],"evidence,":[107],"this":[108],"case":[109],"provides":[110],"view":[112],"its":[119],"past":[124],"society.":[125]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2026-11-10T00:00:00"}