Drugs and Public Policies: reflections with emphasis on prevention
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Saúde e Desenvolvimento Humano |
Texto Completo: | https://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/view/6896 |
Resumo: | Introduction: Translocation corresponds to the exchange of segments between non-homologous chromosomes, resulting in new mutations or inherited. In most cases, translocations are associated with a derivative chromosome. Thus, the objective was to report a patient with the karyotype 46, XX, der(4)t(4;18), resulting from a balanced family translocation involving chromosomes 4 and 18.Case description: Female patient, 3 years, only daughter of a nonconsanguineous couple, presenting facies with discreet ocular hypertelorism, high nasal bridge, simplified and flapping ears, micrognathia, hands with overlapping fingers, growth difficulty and weight gain, delayed psychomotor development, gastroesophageal reflux, alteration of swallowing and laryngotracheomalacia. The patient’s karyotype result revealed 46, XX,der(4)t(4;18) (q35;q12), the mother 46, XX and the father 46,XY,t(4;18) (q35;q12). Family pedigree was built.Discussion: Such findings reveal a diagnosis of familial balanced translocation between chromosomes 4 and 18, leading to partial trisomy of chromosome 4q. This is the patient’s derivative chromosome 4 probably had gain/loss of genetic material from region q12 to q23 on chromosome 18. Cytogenetic analysis and heredogram were essential for the etiological diagnosis.Conclusion: Therefore, the cytogenetic / heredogram analysis was essential for the etiological diagnosis, in which it identified the familiar balanced translocation, allowing a better understanding of the etiopathology in addition to centered genetic counseling. Cytogenomic / molecular studies are needed to elucidate the type and extent of chromosomal regions. |
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Drugs and Public Policies: reflections with emphasis on preventionRelato de uma menina com cromossomo derivativo 4 resultante de translocação herdada paterna t(4:18)Karyotype; Balanced Translocation; Partial Monosomy; Partial Trisomy; Chromosome 4; Chromosome 18Genética Humana; Citogenética HumanaCariótipo; Translocação Balanceada; Monossomia Parcial; Trissomia; Cromossomo 4; Cromossomo 18Introduction: Translocation corresponds to the exchange of segments between non-homologous chromosomes, resulting in new mutations or inherited. In most cases, translocations are associated with a derivative chromosome. Thus, the objective was to report a patient with the karyotype 46, XX, der(4)t(4;18), resulting from a balanced family translocation involving chromosomes 4 and 18.Case description: Female patient, 3 years, only daughter of a nonconsanguineous couple, presenting facies with discreet ocular hypertelorism, high nasal bridge, simplified and flapping ears, micrognathia, hands with overlapping fingers, growth difficulty and weight gain, delayed psychomotor development, gastroesophageal reflux, alteration of swallowing and laryngotracheomalacia. The patient’s karyotype result revealed 46, XX,der(4)t(4;18) (q35;q12), the mother 46, XX and the father 46,XY,t(4;18) (q35;q12). Family pedigree was built.Discussion: Such findings reveal a diagnosis of familial balanced translocation between chromosomes 4 and 18, leading to partial trisomy of chromosome 4q. This is the patient’s derivative chromosome 4 probably had gain/loss of genetic material from region q12 to q23 on chromosome 18. Cytogenetic analysis and heredogram were essential for the etiological diagnosis.Conclusion: Therefore, the cytogenetic / heredogram analysis was essential for the etiological diagnosis, in which it identified the familiar balanced translocation, allowing a better understanding of the etiopathology in addition to centered genetic counseling. Cytogenomic / molecular studies are needed to elucidate the type and extent of chromosomal regions.IntroduçãoTranslocação corresponde a troca de segmentos entre cromossomos não homólogos, decorrendo novas mutações ou herdadas. Na maioria dos casos, translocações estão associadas com cromossomo derivativo. Assim, objetivou-se relatar paciente com cariótipo 46,XX,der(4)t(4;18), resultante de translocação balanceada familiar entre cromossomos 4 e 18.Descrição do casoPaciente sexo feminino, 3 anos, filha única de casal não consanguíneo, apresentando fácies com hipertelorismo ocular discreto, ponte nasal alta, orelhas simplificadas e de abano, micrognatia, mãos com sobreposição de dedos, dificuldade de crescimento e ganho de peso, atraso no desenvolvimento psicomotor, refluxo gastroesofágico, alteração da deglutição e laringotraqueomalácia. O resultado de cariótipo da paciente revelou 46, XX,der(4)t(4;18)(q35;q12), mãe 46, XX e pai 46,XY,t(4;18)(q35;q12). Heredograma familiar foi construído.DiscussãoTais achados revelaram diagnóstico translocação balanceada familiar envolvendo os cromossomos 4 e 18, levando a trissomia parcial do cromossomo 4q. Isto é, o cromossomo 4 derivativo da paciente provavelmente teve ganho/perda de material genético da região q12 até a q23 do cromossomo 18. Análise citogenética foi primordial para o diagnóstico etiológico. ConclusãoPortanto, a análise citogenética/heredograma identificou a translocação balanceada familiar, permitindo melhor entendimento da etiopatologia além de centrado aconselhamento genético. Estudos citogenômicos/moleculares são necessários para elucidar o tipo e extensão das regiões cromossômicas.Universidade LaSalle - Unilasalle CanoasCarvalho, Natalia Dayane MouraPrazeres, Vania Mesquita GadelhaFantin, Cleiton2021-07-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/view/689610.18316/sdh.v9i2.6896Saúde e Desenvolvimento Humano; v. 9, n. 2 (2021)Saúde e Desenvolvimento Humano; v. 9, n. 2 (2021)2317-8582reponame:Saúde e Desenvolvimento Humanoinstname:Universidade La Salle (UNILASALLE)instacron:UNILASALLEporhttps://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/view/6896/pdfhttps://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/downloadSuppFile/6896/1465https://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/downloadSuppFile/6896/1466Direitos autorais 2021 Saúde e Desenvolvimento Humanoinfo:eu-repo/semantics/openAccess2022-03-21T18:55:21Zoai:ojs.revistas.unilasalle.edu.br:article/6896Revistahttp://www.revistas.unilasalle.edu.br/index.php/saude_desenvolvimentohttps://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/oaisdh@unilasalle.edu.br2317-85822317-8582opendoar:2022-03-21T18:55:21Saúde e Desenvolvimento Humano - Universidade La Salle (UNILASALLE)false |
dc.title.none.fl_str_mv |
Drugs and Public Policies: reflections with emphasis on prevention Relato de uma menina com cromossomo derivativo 4 resultante de translocação herdada paterna t(4:18) |
title |
Drugs and Public Policies: reflections with emphasis on prevention |
spellingShingle |
Drugs and Public Policies: reflections with emphasis on prevention Carvalho, Natalia Dayane Moura Karyotype; Balanced Translocation; Partial Monosomy; Partial Trisomy; Chromosome 4; Chromosome 18 Genética Humana; Citogenética Humana Cariótipo; Translocação Balanceada; Monossomia Parcial; Trissomia; Cromossomo 4; Cromossomo 18 |
title_short |
Drugs and Public Policies: reflections with emphasis on prevention |
title_full |
Drugs and Public Policies: reflections with emphasis on prevention |
title_fullStr |
Drugs and Public Policies: reflections with emphasis on prevention |
title_full_unstemmed |
Drugs and Public Policies: reflections with emphasis on prevention |
title_sort |
Drugs and Public Policies: reflections with emphasis on prevention |
author |
Carvalho, Natalia Dayane Moura |
author_facet |
Carvalho, Natalia Dayane Moura Prazeres, Vania Mesquita Gadelha Fantin, Cleiton |
author_role |
author |
author2 |
Prazeres, Vania Mesquita Gadelha Fantin, Cleiton |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
|
dc.contributor.author.fl_str_mv |
Carvalho, Natalia Dayane Moura Prazeres, Vania Mesquita Gadelha Fantin, Cleiton |
dc.subject.none.fl_str_mv |
|
dc.subject.por.fl_str_mv |
Karyotype; Balanced Translocation; Partial Monosomy; Partial Trisomy; Chromosome 4; Chromosome 18 Genética Humana; Citogenética Humana Cariótipo; Translocação Balanceada; Monossomia Parcial; Trissomia; Cromossomo 4; Cromossomo 18 |
topic |
Karyotype; Balanced Translocation; Partial Monosomy; Partial Trisomy; Chromosome 4; Chromosome 18 Genética Humana; Citogenética Humana Cariótipo; Translocação Balanceada; Monossomia Parcial; Trissomia; Cromossomo 4; Cromossomo 18 |
description |
Introduction: Translocation corresponds to the exchange of segments between non-homologous chromosomes, resulting in new mutations or inherited. In most cases, translocations are associated with a derivative chromosome. Thus, the objective was to report a patient with the karyotype 46, XX, der(4)t(4;18), resulting from a balanced family translocation involving chromosomes 4 and 18.Case description: Female patient, 3 years, only daughter of a nonconsanguineous couple, presenting facies with discreet ocular hypertelorism, high nasal bridge, simplified and flapping ears, micrognathia, hands with overlapping fingers, growth difficulty and weight gain, delayed psychomotor development, gastroesophageal reflux, alteration of swallowing and laryngotracheomalacia. The patient’s karyotype result revealed 46, XX,der(4)t(4;18) (q35;q12), the mother 46, XX and the father 46,XY,t(4;18) (q35;q12). Family pedigree was built.Discussion: Such findings reveal a diagnosis of familial balanced translocation between chromosomes 4 and 18, leading to partial trisomy of chromosome 4q. This is the patient’s derivative chromosome 4 probably had gain/loss of genetic material from region q12 to q23 on chromosome 18. Cytogenetic analysis and heredogram were essential for the etiological diagnosis.Conclusion: Therefore, the cytogenetic / heredogram analysis was essential for the etiological diagnosis, in which it identified the familiar balanced translocation, allowing a better understanding of the etiopathology in addition to centered genetic counseling. Cytogenomic / molecular studies are needed to elucidate the type and extent of chromosomal regions. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-07-06 |
dc.type.none.fl_str_mv |
|
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/view/6896 10.18316/sdh.v9i2.6896 |
url |
https://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/view/6896 |
identifier_str_mv |
10.18316/sdh.v9i2.6896 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/view/6896/pdf https://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/downloadSuppFile/6896/1465 https://revistas.unilasalle.edu.br/index.php/saude_desenvolvimento/article/downloadSuppFile/6896/1466 |
dc.rights.driver.fl_str_mv |
Direitos autorais 2021 Saúde e Desenvolvimento Humano info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Direitos autorais 2021 Saúde e Desenvolvimento Humano |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade LaSalle - Unilasalle Canoas |
publisher.none.fl_str_mv |
Universidade LaSalle - Unilasalle Canoas |
dc.source.none.fl_str_mv |
Saúde e Desenvolvimento Humano; v. 9, n. 2 (2021) Saúde e Desenvolvimento Humano; v. 9, n. 2 (2021) 2317-8582 reponame:Saúde e Desenvolvimento Humano instname:Universidade La Salle (UNILASALLE) instacron:UNILASALLE |
instname_str |
Universidade La Salle (UNILASALLE) |
instacron_str |
UNILASALLE |
institution |
UNILASALLE |
reponame_str |
Saúde e Desenvolvimento Humano |
collection |
Saúde e Desenvolvimento Humano |
repository.name.fl_str_mv |
Saúde e Desenvolvimento Humano - Universidade La Salle (UNILASALLE) |
repository.mail.fl_str_mv |
sdh@unilasalle.edu.br |
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1749120543497388032 |