{"id":"https://openalex.org/W2018258246","doi":"https://doi.org/10.1111/j.1471-0528.2008.01948.x","title":"De novo 16p13.11 microdeletion identified by high\u2010resolution array CGH in a fetus with increased nuchal translucency","display_name":"De novo 16p13.11 microdeletion identified by high\u2010resolution array CGH in a fetus with increased nuchal translucency","publication_year":2008,"publication_date":"2008-11-19","ids":{"openalex":"https://openalex.org/W2018258246","doi":"https://doi.org/10.1111/j.1471-0528.2008.01948.x","mag":"2018258246","pmid":"https://pubmed.ncbi.nlm.nih.gov/19018765"},"language":"en","primary_location":{"id":"doi:10.1111/j.1471-0528.2008.01948.x","doi":"https://doi.org/10.1111/j.1471-0528.2008.01948.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1471-0528.2008.01948.x","pdf_url":null,"source":{"id":"https://openalex.org/S4210173111","display_name":"BJOG An International Journal of Obstetrics & Gynaecology","issn_l":"0306-5456","issn":["0306-5456","1365-215X","1470-0328","1471-0528"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"BJOG: An International Journal of Obstetrics & Gynaecology","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/A5111386541","display_name":"L. W. Law","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]},{"id":"https://openalex.org/I4210108821","display_name":"Prince of Wales Hospital","ror":"https://ror.org/022arq532","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210108821"]},{"id":"https://openalex.org/I4210114914","display_name":"Prince of Wales Hospital","ror":"https://ror.org/02827ca86","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I1294586568","https://openalex.org/I4210114914"]}],"countries":["AU","CN","HK"],"is_corresponding":false,"raw_author_name":"LW Law","raw_affiliation_strings":["Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, SAR","Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, SAR","institution_ids":["https://openalex.org/I177725633","https://openalex.org/I4210114914"]},{"raw_affiliation_string":"Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","institution_ids":["https://openalex.org/I4210108821","https://openalex.org/I4210114914"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010731150","display_name":"Tze Kin Lau","orcid":"https://orcid.org/0000-0002-0242-1410","observed_orcids":["https://orcid.org/0000-0002-0242-1410"]},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]},{"id":"https://openalex.org/I4210108821","display_name":"Prince of Wales Hospital","ror":"https://ror.org/022arq532","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210108821"]},{"id":"https://openalex.org/I4210114914","display_name":"Prince of Wales Hospital","ror":"https://ror.org/02827ca86","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I1294586568","https://openalex.org/I4210114914"]}],"countries":["AU","CN","HK"],"is_corresponding":false,"raw_author_name":"TK Lau","raw_affiliation_strings":["Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","Li Ka Shing Institute of Health Sciences, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","institution_ids":["https://openalex.org/I4210108821","https://openalex.org/I4210114914"]},{"raw_affiliation_string":"Li Ka Shing Institute of Health Sciences, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR","institution_ids":["https://openalex.org/I177725633"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112140945","display_name":"TY Fung","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108821","display_name":"Prince of Wales Hospital","ror":"https://ror.org/022arq532","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210108821"]},{"id":"https://openalex.org/I4210114914","display_name":"Prince of Wales Hospital","ror":"https://ror.org/02827ca86","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I1294586568","https://openalex.org/I4210114914"]}],"countries":["AU","CN"],"is_corresponding":false,"raw_author_name":"TY Fung","raw_affiliation_strings":["Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","institution_ids":["https://openalex.org/I4210108821","https://openalex.org/I4210114914"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111666489","display_name":"TY Leung","orcid":"https://orcid.org/0000-0002-9153-0343","observed_orcids":["https://orcid.org/0000-0002-9153-0343"]},"institutions":[{"id":"https://openalex.org/I4210108821","display_name":"Prince of Wales Hospital","ror":"https://ror.org/022arq532","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210108821"]},{"id":"https://openalex.org/I4210114914","display_name":"Prince of Wales Hospital","ror":"https://ror.org/02827ca86","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I1294586568","https://openalex.org/I4210114914"]}],"countries":["AU","CN"],"is_corresponding":false,"raw_author_name":"TY Leung","raw_affiliation_strings":["Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","institution_ids":["https://openalex.org/I4210108821","https://openalex.org/I4210114914"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083833865","display_name":"Chi Chiu Wang","orcid":"https://orcid.org/0000-0002-3928-7278","observed_orcids":["https://orcid.org/0000-0002-3928-7278"]},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]},{"id":"https://openalex.org/I4210108821","display_name":"Prince of Wales Hospital","ror":"https://ror.org/022arq532","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210108821"]},{"id":"https://openalex.org/I4210114914","display_name":"Prince of Wales Hospital","ror":"https://ror.org/02827ca86","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I1294586568","https://openalex.org/I4210114914"]}],"countries":["AU","CN","HK"],"is_corresponding":false,"raw_author_name":"CC Wang","raw_affiliation_strings":["Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","Li Ka Shing Institute of Health Sciences, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","institution_ids":["https://openalex.org/I4210108821","https://openalex.org/I4210114914"]},{"raw_affiliation_string":"Li Ka Shing Institute of Health Sciences, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR","institution_ids":["https://openalex.org/I177725633"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017431965","display_name":"Kwong Wai Choy","orcid":"https://orcid.org/0000-0002-3616-6200","observed_orcids":["https://orcid.org/0000-0002-3616-6200"]},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]},{"id":"https://openalex.org/I4210108821","display_name":"Prince of Wales Hospital","ror":"https://ror.org/022arq532","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210108821"]},{"id":"https://openalex.org/I4210114914","display_name":"Prince of Wales Hospital","ror":"https://ror.org/02827ca86","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I1294586568","https://openalex.org/I4210114914"]}],"countries":["AU","CN","HK"],"is_corresponding":true,"raw_author_name":"KW Choy","raw_affiliation_strings":["Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","Li Ka Shing Institute of Health Sciences, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital","institution_ids":["https://openalex.org/I4210108821","https://openalex.org/I4210114914"]},{"raw_affiliation_string":"Li Ka Shing Institute of Health Sciences, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR","institution_ids":["https://openalex.org/I177725633"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5017431965"],"corresponding_institution_ids":["https://openalex.org/I177725633","https://openalex.org/I4210108821","https://openalex.org/I4210114914"],"apc_list":{"value":5190,"currency":"USD","value_usd":5190},"apc_paid":null,"fwci":4.4878,"has_fulltext":false,"cited_by_count":35,"citation_normalized_percentile":{"value":0.93951783,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"116","issue":"2","first_page":"339","last_page":"343"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9848999977111816,"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":0.9848999977111816,"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":0.014800000004470348,"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":9.999999747378752e-05,"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/de-novo-microdeletion","display_name":"de novo microdeletion","score":0.8980000019073486},{"id":"https://openalex.org/keywords/increased-nuchal-translucency","display_name":"increased nuchal translucency","score":0.8709999918937683},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.6579999923706055},{"id":"https://openalex.org/keywords/alpha-globin-gene","display_name":"alpha-globin gene","score":0.8370000123977661},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.5009999871253967},{"id":"https://openalex.org/keywords/cordocentesis","display_name":"cordocentesis","score":0.7630000114440918}],"concepts":[{"id":"https://openalex.org/C2776984250","wikidata":"https://www.wikidata.org/wiki/Q10329580","display_name":"Microdeletion syndrome","level":4,"score":0.6184737682342529},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.6158202886581421},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5816616415977478},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5613540410995483},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.507731556892395},{"id":"https://openalex.org/C124942203","wikidata":"https://www.wikidata.org/wiki/Q656638","display_name":"Comparative genomic hybridization","level":4,"score":0.4968397915363312},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4920479953289032},{"id":"https://openalex.org/C186836561","wikidata":"https://www.wikidata.org/wiki/Q1931516","display_name":"Microarray","level":4,"score":0.4889122545719147},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.47306501865386963},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.42903125286102295},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3994654715061188},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3846890926361084},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3406655192375183},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.34054064750671387},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1930372714996338},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.0897749662399292},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002885","descriptor_name":"Chromosomes, Human, Pair 16","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":"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":"D007621","descriptor_name":"Karyotyping","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":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011261","descriptor_name":"Pregnancy Trimester, First","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","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},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D048208","descriptor_name":"Nuchal Translucency Measurement","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055028","descriptor_name":"Comparative Genomic Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055542","descriptor_name":"alpha-Globins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1471-0528.2008.01948.x","doi":"https://doi.org/10.1111/j.1471-0528.2008.01948.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1471-0528.2008.01948.x","pdf_url":null,"source":{"id":"https://openalex.org/S4210173111","display_name":"BJOG An International Journal of Obstetrics & Gynaecology","issn_l":"0306-5456","issn":["0306-5456","1365-215X","1470-0328","1471-0528"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"BJOG: An International Journal of Obstetrics & Gynaecology","raw_type":"journal-article"},{"id":"pmid:19018765","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19018765","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":"BJOG : an international journal of obstetrics and gynaecology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"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":16,"referenced_works":["https://openalex.org/W1484187172","https://openalex.org/W1966994129","https://openalex.org/W1968046362","https://openalex.org/W1973846826","https://openalex.org/W2020393782","https://openalex.org/W2036841261","https://openalex.org/W2040159957","https://openalex.org/W2107601960","https://openalex.org/W2114387726","https://openalex.org/W2116753165","https://openalex.org/W2131037108","https://openalex.org/W2139714132","https://openalex.org/W2148260008","https://openalex.org/W2159894890","https://openalex.org/W2171787092","https://openalex.org/W2327298317"],"related_works":["https://openalex.org/W7033579850","https://openalex.org/W2090388238","https://openalex.org/W2153309389","https://openalex.org/W2417584601","https://openalex.org/W1994964921","https://openalex.org/W2029158880","https://openalex.org/W1809088741","https://openalex.org/W2048130495","https://openalex.org/W2419374782","https://openalex.org/W2045150237"],"abstract_inverted_index":{"OBJECTIVE:":[0],"We":[1],"investigated":[2],"the":[3,33,46,53,68,90,100,165,175],"application":[4,190],"of":[5,70,78,135,146,150,177],"high-resolution":[6],"microarray-based":[7],"comparative":[8],"genomic":[9,72],"hybridisation":[10],"(array":[11],"CGH)":[12],"on":[13,60,113],"a":[14,110],"fetus":[15,91],"showing":[16],"increased":[17,101],"nuchal":[18],"translucency":[19],"(NT).":[20],"DESIGN:":[21],"Case":[22],"study.":[23],"SETTING:":[24],"Tertiary":[25],"referral":[26],"obstetrics":[27],"unit.":[28],"SAMPLE:":[29],"Pregnant":[30],"woman":[31],"attended":[32],"antenatal":[34],"clinic.":[35],"METHODS:":[36],"Conventional":[37],"karyotyping":[38],"and":[39,137,167,194],"genetic":[40,87],"test":[41],"was":[42,58,130,140],"carried":[43,141],"out":[44,142],"for":[45],"alpha-globin":[47],"gene.":[48],"High-resolution":[49],"array":[50,160],"CGH":[51,107,161],"using":[52],"high-density":[54],"244K":[55],"Agilent":[56],"microarray":[57],"performed":[59],"fetal":[61],"blood":[62],"sample":[63],"by":[64],"cordocentesis":[65],"to":[66,103,122,124],"investigate":[67],"possibility":[69],"any":[71],"imbalance.":[73],"MAIN":[74],"OUTCOME":[75],"MEASURES:":[76],"Detection":[77],"chromosomal":[79],"abnormality.":[80],"RESULTS:":[81],"Karyotyping":[82],"analysis":[83,108],"showed":[84],"46,XY.":[85],"Molecular":[86],"diagnosis":[88,193],"confirms":[89],"has":[92,119],"Hb-H":[93],"constant":[94],"spring":[95],"disease":[96],"but":[97],"cannot":[98],"explain":[99],"NT":[102],"3.2":[104],"mm.":[105],"Array":[106],"discovered":[109],"1.32-Mb":[111],"microdeletion":[112],"chromosome":[114,172,178],"16p13.11.":[115],"Deletion":[116],"at":[117,132,143],"16p13.11":[118],"been":[120],"implicated":[121],"predispose":[123],"autism":[125],"and/or":[126],"mental":[127,151],"retardation.":[128],"Baby":[129],"delivered":[131],"40":[133],"weeks":[134],"gestation,":[136],"follow":[138],"up":[139],"3":[144],"months":[145],"age":[147],"without":[148],"sign":[149],"retardation/developmental":[152],"delay.":[153],"CONCLUSIONS:":[154],"This":[155],"case":[156],"study":[157],"demonstrated":[158],"that":[159],"can":[162],"accurately":[163],"calibrate":[164],"size":[166],"identify":[168],"de":[169],"novo":[170],"interstitial":[171],"imbalances.":[173],"However,":[174],"presence":[176],"copy":[179],"variants":[180],"with":[181],"unknown":[182],"clinical":[183],"significance":[184],"currently":[185],"limits":[186],"its":[187],"wider":[188],"scale":[189],"in":[191],"prenatal":[192],"needs":[195],"further":[196],"investigations.":[197]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":5}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}