{"id":"https://openalex.org/W2078150714","doi":"https://doi.org/10.1002/pd.1970040111","title":"Prenatal diagnosis of mosaicism 46, XX/46, XX, \u221221, +t(21q21q)","display_name":"Prenatal diagnosis of mosaicism 46, XX/46, XX, \u221221, +t(21q21q)","publication_year":1984,"publication_date":"1984-01-01","ids":{"openalex":"https://openalex.org/W2078150714","doi":"https://doi.org/10.1002/pd.1970040111","mag":"2078150714","pmid":"https://pubmed.ncbi.nlm.nih.gov/6728829"},"language":"en","primary_location":{"id":"doi:10.1002/pd.1970040111","doi":"https://doi.org/10.1002/pd.1970040111","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.1970040111","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"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-70","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":"Prenatal Diagnosis","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/A5052279573","display_name":"Wenda S. Long","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wenda S. Long","raw_affiliation_strings":["Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109055248","display_name":"Michael T. Mennuti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael T. Mennuti","raw_affiliation_strings":["Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023255205","display_name":"Beverly S. Emanuel","orcid":"https://orcid.org/0000-0002-9207-6955","observed_orcids":["https://orcid.org/0000-0002-9207-6955"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beverly S. Emanuel","raw_affiliation_strings":["Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008262289","display_name":"Elaine H. Zackai","orcid":"https://orcid.org/0000-0002-8002-893X","observed_orcids":["https://orcid.org/0000-0002-8002-893X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elaine H. Zackai","raw_affiliation_strings":["Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania; Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Department of Obstetrics and Gynecology, University of Pennsylvania","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Cytogenetics Laboratory, Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, U.S.A","institution_ids":["https://openalex.org/I1335321130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":null,"fwci":0.5991,"has_fulltext":false,"cited_by_count":7,"citation_normalized_percentile":{"value":0.70124247,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"4","issue":"1","first_page":"73","last_page":"77"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9984999895095825,"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":0.9984999895095825,"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":0.0003000000142492354,"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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational 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/mosaicism","display_name":"mosaicism","score":0.6520000100135803},{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":0.8629999756813049},{"id":"https://openalex.org/keywords/translocation","display_name":"translocation","score":0.47600001096725464},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6060000061988831}],"concepts":[{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.8220499753952026},{"id":"https://openalex.org/C2780646683","wikidata":"https://www.wikidata.org/wiki/Q473749","display_name":"Amnion","level":4,"score":0.6978768110275269},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.6472640633583069},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5784951448440552},{"id":"https://openalex.org/C2908755955","wikidata":"https://www.wikidata.org/wiki/Q744962","display_name":"Chromosomal Abnormality","level":5,"score":0.5680805444717407},{"id":"https://openalex.org/C2780189214","wikidata":"https://www.wikidata.org/wiki/Q744962","display_name":"Chromosome abnormality","level":5,"score":0.5308732986450195},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4694490134716034},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.43601784110069275},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.42368972301483154},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.40038323402404785},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.38821613788604736},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.3833898901939392},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3793152868747711},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.37814241647720337},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2726432681083679},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2560691237449646},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.19299465417861938},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000649","descriptor_name":"Amniocentesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002904","descriptor_name":"Chromosomes, Human, 21-22 and Y","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":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/pd.1970040111","doi":"https://doi.org/10.1002/pd.1970040111","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.1970040111","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"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-70","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":"Prenatal Diagnosis","raw_type":"journal-article"},{"id":"pmid:6728829","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6728829","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":"Prenatal diagnosis","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1987020374","https://openalex.org/W2000012816","https://openalex.org/W2000870074","https://openalex.org/W2041349631","https://openalex.org/W2051897613","https://openalex.org/W2074766807","https://openalex.org/W2080828085","https://openalex.org/W2084464619","https://openalex.org/W2109447230","https://openalex.org/W2135333078","https://openalex.org/W2163516993","https://openalex.org/W2886810227","https://openalex.org/W3141928084"],"related_works":["https://openalex.org/W135165977","https://openalex.org/W1967376473","https://openalex.org/W2091010647","https://openalex.org/W1971265111","https://openalex.org/W2157362825","https://openalex.org/W2163642410","https://openalex.org/W2022794741","https://openalex.org/W2093840358","https://openalex.org/W2037164951","https://openalex.org/W1988816749"],"abstract_inverted_index":{"Mosaicism":[0],"for":[1,28],"a":[2,16],"structural":[3],"chromosome":[4],"abnormality":[5,40],"in":[6,30,41,70],"amniotic":[7],"cell":[8,73,76],"cultures":[9],"indicative":[10],"of":[11,37,51,63],"true":[12],"fetal":[13,71],"mosaicism":[14],"is":[15,33],"rare":[17],"event.":[18],"In":[19],"addition":[20],"to":[21],"the":[22,25,38,52,60],"laboratory":[23],"findings":[24],"clinical":[26],"interpretation":[27],"counseling":[29],"such":[31],"cases":[32],"based":[34],"on":[35],"observation":[36],"same":[39,53],"liveborns":[42],"as":[43,45],"well":[44],"previous":[46],"experience":[47],"with":[48],"prenatal":[49,61],"diagnosis":[50,62],"or":[54],"similar":[55],"abnormalities.":[56],"We":[57],"report":[58],"here":[59],"46,XX/46,XX,-21,+t(":[64],"21q21q":[65],")":[66],"which":[67],"was":[68],"confirmed":[69],"skin":[72],"and":[74],"amnion":[75],"cultures.":[77]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}