{"id":"https://openalex.org/W2005758291","doi":"https://doi.org/10.1002/ajmg.a.31909","title":"Fetal trisomy 5 mosaicism: Case report and literature review","display_name":"Fetal trisomy 5 mosaicism: Case report and literature review","publication_year":2007,"publication_date":"2007-08-13","ids":{"openalex":"https://openalex.org/W2005758291","doi":"https://doi.org/10.1002/ajmg.a.31909","mag":"2005758291","pmid":"https://pubmed.ncbi.nlm.nih.gov/17702005"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.31909","doi":"https://doi.org/10.1002/ajmg.a.31909","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.31909","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":["cwts-core","doyens","jufo-1","ki-jl-1","medline","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 Part A","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/A5008843478","display_name":"Nicoletta Villa","orcid":"https://orcid.org/0000-0002-4439-9880","observed_orcids":["https://orcid.org/0000-0002-4439-9880"]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Nicoletta Villa","raw_affiliation_strings":["Medical Genetics Lab, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Lab, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077231435","display_name":"Serena Redaelli","orcid":"https://orcid.org/0000-0003-0415-4085","observed_orcids":["https://orcid.org/0000-0003-0415-4085"]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]},{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Serena Redaelli","raw_affiliation_strings":["Department of Neuroscience & Biomedical Technologies, University of Milan-Bicocca, Italy","Medical Genetics Lab, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience & Biomedical Technologies, University of Milan-Bicocca, Italy","institution_ids":["https://openalex.org/I66752286"]},{"raw_affiliation_string":"Medical Genetics Lab, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072456593","display_name":"Cesarina Borroni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Cesarina Borroni","raw_affiliation_strings":["Neonatal Intensive Care Unit, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Intensive Care Unit, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053326821","display_name":"Carla Maria Colombo","orcid":"https://orcid.org/0000-0003-0716-481X","observed_orcids":["https://orcid.org/0000-0003-0716-481X"]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carla Colombo","raw_affiliation_strings":["Neonatal Intensive Care Unit, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neonatal Intensive Care Unit, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040327457","display_name":"Nadia Roncaglia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Nadia Roncaglia","raw_affiliation_strings":["Obstetric & Gynecological Clinic, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Obstetric & Gynecological Clinic, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102998705","display_name":"Elena Maria Sala","orcid":"https://orcid.org/0009-0004-2492-191X","observed_orcids":["https://orcid.org/0009-0004-2492-191X"]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elena Sala","raw_affiliation_strings":["Medical Genetics Lab, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Lab, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033748226","display_name":"Francesca Crosti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Crosti","raw_affiliation_strings":["Medical Genetics Lab, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Lab, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024645539","display_name":"Anna Cappellini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Anna Cappellini","raw_affiliation_strings":["Medical Genetics Lab, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Lab, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5106408523","display_name":"Leda Dalpr\u00e0","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210110840","display_name":"Azienda Ospedaliera San Gerardo","ror":"https://ror.org/01xf83457","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210110840"]},{"id":"https://openalex.org/I66752286","display_name":"University of Milano-Bicocca","ror":"https://ror.org/01ynf4891","country_code":"IT","type":"education","lineage":["https://openalex.org/I66752286"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Leda Dalpr\u00e0","raw_affiliation_strings":["Department of Neuroscience & Biomedical Technologies, University of Milan-Bicocca, Italy","Medical Genetics Lab, HSGerardo, Monza, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience & Biomedical Technologies, University of Milan-Bicocca, Italy","institution_ids":["https://openalex.org/I66752286"]},{"raw_affiliation_string":"Medical Genetics Lab, HSGerardo, Monza, Italy","institution_ids":["https://openalex.org/I4210110840"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5106408523"],"corresponding_institution_ids":["https://openalex.org/I4210110840","https://openalex.org/I66752286"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.8651,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.75641026,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"143A","issue":"19","first_page":"2343","last_page":"2346"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.5015000104904175,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.5015000104904175,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.09939999878406525,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.05290000140666962,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/trisomy-5","display_name":"trisomy 5","score":0.9300000071525574},{"id":"https://openalex.org/keywords/mosaicism","display_name":"mosaicism","score":0.7960000038146973},{"id":"https://openalex.org/keywords/fetal-malformations","display_name":"fetal malformations","score":0.5090000033378601},{"id":"https://openalex.org/keywords/chromosomal-mosaicism","display_name":"chromosomal mosaicism","score":0.6679999828338623},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.4429999887943268}],"concepts":[{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.511763334274292},{"id":"https://openalex.org/C2777091541","wikidata":"https://www.wikidata.org/wiki/Q9008292","display_name":"Neonatal intensive care unit","level":2,"score":0.46764111518859863},{"id":"https://openalex.org/C161191863","wikidata":"https://www.wikidata.org/wiki/Q199655","display_name":"Library science","level":1,"score":0.36494576930999756},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.28719624876976013},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2718774676322937},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1857767403125763},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14989420771598816},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.1408611238002777},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005333","descriptor_name":"Fetus","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","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":true},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","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":true}],"locations_count":3,"locations":[{"id":"doi:10.1002/ajmg.a.31909","doi":"https://doi.org/10.1002/ajmg.a.31909","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.31909","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":["cwts-core","doyens","jufo-1","ki-jl-1","medline","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 Part A","raw_type":"journal-article"},{"id":"pmid:17702005","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17702005","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. Part A","raw_type":"Case Reports"},{"id":"pmh:oai:boa.unimib.it:10281/14841","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10281/14841","pdf_url":null,"source":{"id":"https://openalex.org/S4306401259","display_name":"BOA (University of Milano-Bicocca)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I66752286","host_organization_name":"University of Milano-Bicocca","host_organization_lineage":["https://openalex.org/I66752286"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1602300998","https://openalex.org/W1971744055","https://openalex.org/W1988132624","https://openalex.org/W1991457245","https://openalex.org/W2010466566","https://openalex.org/W2032625119","https://openalex.org/W2037022021","https://openalex.org/W2043521918","https://openalex.org/W2050637099","https://openalex.org/W2065226010","https://openalex.org/W2081962828","https://openalex.org/W2083318226","https://openalex.org/W2095540151"],"related_works":["https://openalex.org/W3144426676","https://openalex.org/W2150627712","https://openalex.org/W1896217978","https://openalex.org/W2522711521","https://openalex.org/W2019154028","https://openalex.org/W4240870703","https://openalex.org/W873938414","https://openalex.org/W2318303297","https://openalex.org/W2035623498","https://openalex.org/W2135206290"],"abstract_inverted_index":{"no":[0],"abstracat":[1]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1}],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2025-10-10T00:00:00"}