{"id":"https://openalex.org/W4387584567","doi":"https://doi.org/10.3329/bmrcb.v49i2.62712","title":"Down\u2019s Syndrome Presented with Transmission of Maternal Translocation of 2; 21 Chromosomes. A Case Report","display_name":"Down\u2019s Syndrome Presented with Transmission of Maternal Translocation of 2; 21 Chromosomes. A Case Report","publication_year":2023,"publication_date":"2023-08-01","ids":{"openalex":"https://openalex.org/W4387584567","doi":"https://doi.org/10.3329/bmrcb.v49i2.62712"},"language":"en","primary_location":{"id":"doi:10.3329/bmrcb.v49i2.62712","doi":"https://doi.org/10.3329/bmrcb.v49i2.62712","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3329/bmrcb.v49i2.62712","pdf_url":"https://www.banglajol.info/index.php/BMRCB/article/download/62712/46327","source":{"id":"https://openalex.org/S63928136","display_name":"Bangladesh Medical Research Council Bulletin","issn_l":"0377-9238","issn":["0377-9238","2224-7238"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jpps-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bangladesh Medical Research Council Bulletin","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://www.banglajol.info/index.php/BMRCB/article/download/62712/46327","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Mohammad Moniruzzaman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"Mohammad Moniruzzaman","raw_affiliation_strings":["Department of Immunology, BIRDEM General Hospital Shahbag, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, BIRDEM General Hospital Shahbag, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042351530","display_name":"Pallab Kumar Das","orcid":"https://orcid.org/0000-0003-2463-174X","observed_orcids":["https://orcid.org/0000-0003-2463-174X"]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"Pallab Kumar Das","raw_affiliation_strings":["Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113021889","display_name":"Mhabuba Akter","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"Mhabuba Akter","raw_affiliation_strings":["Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083549159","display_name":"Jasmin Nur","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"Jasmin Nur","raw_affiliation_strings":["Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109341911","display_name":"Zeenat Farzana Rahman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"Zeenat Farzana Rahman","raw_affiliation_strings":["Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044885138","display_name":"Md Sohrab Alam","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"Md Sohrab Alam","raw_affiliation_strings":["Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113924197","display_name":"Mansura Khan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"Mansura Khan","raw_affiliation_strings":["Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, BIRDEM General Hospital, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113021890","display_name":"M Sawkat Hasan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800391996","display_name":"Bangladesh Institute of Research and Rehabilitation for Diabetes Endocrine and Metabolic Disorders","ror":"https://ror.org/047mvza98","country_code":"BD","type":"healthcare","lineage":["https://openalex.org/I2800391996"]}],"countries":["BD"],"is_corresponding":false,"raw_author_name":"M Sawkat Hasan","raw_affiliation_strings":["Division of Laboratory Science, BIRDEM General Hospital, Dhaka, Bangladesh"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Laboratory Science, BIRDEM General Hospital, Dhaka, Bangladesh","institution_ids":["https://openalex.org/I2800391996"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I2800391996"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"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":"49","issue":"2","first_page":"143","last_page":"147"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9970999956130981,"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"}},"topics":[{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9970999956130981,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0017000000225380063,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.00019999999494757503,"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/down-syndrome","display_name":"Down syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/maternal-translocation","display_name":"maternal translocation","score":0.6460000276565552},{"id":"https://openalex.org/keywords/balanced-translocation-carriers","display_name":"balanced translocation carriers","score":0.7139999866485596},{"id":"https://openalex.org/keywords/stillbirth","display_name":"stillbirth","score":0.6869999766349792},{"id":"https://openalex.org/keywords/prenatal-cytogenetic-diagnosis","display_name":"prenatal cytogenetic diagnosis","score":0.9079999923706055}],"concepts":[{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.9102820158004761},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8886004090309143},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.6544007658958435},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6188870668411255},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.5070662498474121},{"id":"https://openalex.org/C2779954681","wikidata":"https://www.wikidata.org/wiki/Q47715","display_name":"Down syndrome","level":2,"score":0.4658995568752289},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.45991694927215576},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.368912011384964},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3538563549518585},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19265249371528625},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.09033641219139099},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.08295753598213196},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3329/bmrcb.v49i2.62712","doi":"https://doi.org/10.3329/bmrcb.v49i2.62712","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3329/bmrcb.v49i2.62712","pdf_url":"https://www.banglajol.info/index.php/BMRCB/article/download/62712/46327","source":{"id":"https://openalex.org/S63928136","display_name":"Bangladesh Medical Research Council Bulletin","issn_l":"0377-9238","issn":["0377-9238","2224-7238"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jpps-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bangladesh Medical Research Council Bulletin","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.3329/bmrcb.v49i2.62712","doi":"https://doi.org/10.3329/bmrcb.v49i2.62712","is_oa":true,"landing_page_url":"http://dx.doi.org/10.3329/bmrcb.v49i2.62712","pdf_url":"https://www.banglajol.info/index.php/BMRCB/article/download/62712/46327","source":{"id":"https://openalex.org/S63928136","display_name":"Bangladesh Medical Research Council Bulletin","issn_l":"0377-9238","issn":["0377-9238","2224-7238"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jpps-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bangladesh Medical Research Council Bulletin","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"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":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4387584567.pdf","grobid_xml":"https://content.openalex.org/works/W4387584567.grobid-xml"},"referenced_works_count":16,"referenced_works":["https://openalex.org/W161528247","https://openalex.org/W1544278759","https://openalex.org/W1972385548","https://openalex.org/W1975081381","https://openalex.org/W1976227315","https://openalex.org/W2000157849","https://openalex.org/W2045243418","https://openalex.org/W2108621309","https://openalex.org/W2121274568","https://openalex.org/W2147061679","https://openalex.org/W2147313317","https://openalex.org/W2330057621","https://openalex.org/W2614575602","https://openalex.org/W2917495264","https://openalex.org/W2980801468","https://openalex.org/W4239383780"],"related_works":["https://openalex.org/W2051796120","https://openalex.org/W1536543195","https://openalex.org/W2038129181","https://openalex.org/W1593368233","https://openalex.org/W2109072914","https://openalex.org/W2913074934","https://openalex.org/W2409833986","https://openalex.org/W607622750","https://openalex.org/W152118556","https://openalex.org/W2045243418"],"abstract_inverted_index":{"Background:":[0],"Down's":[1,18,85,179],"syndrome":[2,19,86,180,200],"is":[3,20,227],"a":[4,37,70,101,178],"genetic":[5],"condition":[6],"marked":[7],"by":[8,23,210],"distinctive":[9],"physical":[10],"characteristics":[11],"and":[12,61,132,152,168,188],"some":[13],"degree":[14],"of":[15,25,75,115,126,141,160,198],"cognitive":[16],"impairment.":[17],"mostly":[21],"caused":[22],"trisomy":[24,97],"chromosome":[26,29,187],"21,":[27],"while":[28],"translocations":[30],"are":[31],"also":[32],"frequent.":[33],"Objective:":[34],"To":[35],"evaluate":[36],"rare":[38],"2;21":[39,102],"translocation":[40,103,116,191,205,216],"in":[41,136,217],"the":[42,58,112,124,127,143,146,157,165,218,223,230],"proband's":[43,166],"family":[44],"that":[45],"was":[46,54,69,93,129,145,177],"associated":[47,99],"with":[48,87,100,182],"Down":[49],"syndrome.":[50],"Methods:":[51],"Chromosomal":[52],"analysis":[53,226],"carried":[55],"out":[56],"using":[57],"G-banding":[59],"technique":[60],"traditional":[62],"peripheral":[63],"lymphocyte":[64],"culture.":[65],"Case:":[66],"The":[67,78,91,174,195],"proband":[68,92,144],"9":[71],"months":[72],"baby":[73],"boy":[74],"non-consanguineous":[76],"parents.":[77],"doctors":[79],"clinically":[80],"diagnosed":[81],"him":[82],"as":[83],"having":[84],"all":[88],"typical":[89],"features.":[90,120],"found":[94],"to":[95,203],"have":[96],"21":[98,185],"inherited":[104],"from":[105],"his":[106,109],"mother":[107,110],"because":[108],"has":[111,208,220],"same":[113,158],"type":[114,159],"without":[117],"any":[118],"phenotypic":[119],"Maternal":[121],"age":[122],"at":[123,138],"time":[125],"study":[128],"35":[130],"years":[131],"first":[133],"pregnancy":[134],"ended":[135],"stillbirth":[137],"26th":[139],"weeks":[140],"gestation,":[142],"second":[147],"issue.":[148],"His":[149],"maternal":[150],"aunt":[151],"cousin":[153],"brother":[154],"both":[155],"had":[156,170],"translocation.":[161],"In":[162],"chromosomal":[163],"analysis,":[164],"father":[167],"uncle":[169],"normal":[171,184],"genotypic":[172],"distribution.":[173],"current":[175],"example":[176],"case":[181,197],"one":[183,189],"no":[186],"Reciprocal":[190],"t":[192],"(2;21).":[193],"Conclusion:":[194],"present":[196],"Down\u2019s":[199],"occurs":[201],"due":[202],"reciprocal":[204],"(2;21)":[206],"probably":[207],"arisen":[209],"familial":[211],"transmission.":[212],"Once":[213],"an":[214],"imbalanced":[215],"fetus/child":[219],"been":[221],"found,":[222],"prenatal":[224],"cytogenetic":[225],"critical":[228],"for":[229],"next":[231],"pregnancies.":[232],"Bangladesh":[233],"Medical":[234],"Res":[235],"Counc":[236],"Bull":[237],"2023;":[238],"49(2):":[239],"143-147":[240]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2023-10-13T00:00:00"}
