Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466 |
Resumo: | Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence. |
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Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial CasesRearranjos Subteloméricos: Apresentação de 21 Probandos, com Ênfase nos Casos FamiliaresIntellectual Disability/geneticsSubtelomeric Rearrangements Gene Rearrangement/geneticsTelomere/geneticsDeficiência Intelectual/genéticaRearranjo Génico/genéticaTelómero/genéticaIntroduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence.Introdução: O défice intelectual afeta 2% – 3% da população geral, sendo encontrada uma alteração cromossómica em 4% – 28% dos casos e uma alteração subtelomérica em 3% – 16%. Estas alterações subteloméricas são, na maioria dos casos, submicroscópicas, não sendo detetadas no cariótipo convencional. Podem ser de novo ou herdadas de um progenitor afetado ou de um progenitor saudável portador de um rearranjo equilibrado. O objetivo deste estudo foi caracterizar os doentes seguidos no nosso centro de genética médica com uma deleção e uma duplicação nas regiões subteloméricas.Material e Métodos: Caracterização clínica e citogenética de 21 probandos com alterações subteloméricas seguidos no nosso centro entre 1998 e 2017.Resultados: Foram caracterizados 21 probandos que apresentavam défice intelectual e dismorfia facial, pertencentes a 19 famílias. Sete tinham alterações do comportamento, cinco epilepsia e 14 outro sinal ou sintoma. Quatro tinham alterações no cariótipo e quatro foram diagnosticados por array-comparative genomic hybridization. Em quatro famílias não foi possível o estudo dos progenitores. Quando um dos fenótipos era dominante (síndrome de deleção ou duplicação), foi atribuída a classificação online mendelian inheritance in man.Discussão: Foi realizada classificação dos doentes e das famílias. As alterações nas regiões subteloméricas são, apesar de raras, uma causa substancial para défice intelectual sindrómico com repercussões familiares importantes. É essencial lembrar que um arraycomparative genomic hybridization normal não exclui um rearranjo equilibrado familiar.Conclusão: O estudo dos progenitores é essencial não só para caracterização completa do rearranjo mas também para um aconselhamento genético preciso e identificação de familiares em risco de recorrência.Ordem dos Médicos2019-08-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfapplication/mswordapplication/mswordapplication/pdfapplication/mswordapplication/pdfimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpegimage/jpeghttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466oai:ojs.www.actamedicaportuguesa.com:article/11466Acta Médica Portuguesa; Vol. 32 No. 7-8 (2019): July-August; 529-535Acta Médica Portuguesa; Vol. 32 N.º 7-8 (2019): Julho-Agosto; 529-5351646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/5738https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/10866https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11111https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11112https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11118https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11232https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11248https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11474https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11475https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11476https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11477https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11478https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11479https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11480https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11481https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11482https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11483https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11484https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11485https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11486https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11487https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11488https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11489https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11490https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466/11491Direitos de Autor (c) 2019 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessSoares, Ana RitaSoares, GabrielaMota-Freitas, ManuelaOliva-Teles, NatáliaFortuna, Ana Maria2022-12-20T11:06:15Zoai:ojs.www.actamedicaportuguesa.com:article/11466Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:20:02.455956Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases Rearranjos Subteloméricos: Apresentação de 21 Probandos, com Ênfase nos Casos Familiares |
title |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases |
spellingShingle |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases Soares, Ana Rita Intellectual Disability/genetics Subtelomeric Rearrangements Gene Rearrangement/genetics Telomere/genetics Deficiência Intelectual/genética Rearranjo Génico/genética Telómero/genética |
title_short |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases |
title_full |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases |
title_fullStr |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases |
title_full_unstemmed |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases |
title_sort |
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases |
author |
Soares, Ana Rita |
author_facet |
Soares, Ana Rita Soares, Gabriela Mota-Freitas, Manuela Oliva-Teles, Natália Fortuna, Ana Maria |
author_role |
author |
author2 |
Soares, Gabriela Mota-Freitas, Manuela Oliva-Teles, Natália Fortuna, Ana Maria |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Soares, Ana Rita Soares, Gabriela Mota-Freitas, Manuela Oliva-Teles, Natália Fortuna, Ana Maria |
dc.subject.por.fl_str_mv |
Intellectual Disability/genetics Subtelomeric Rearrangements Gene Rearrangement/genetics Telomere/genetics Deficiência Intelectual/genética Rearranjo Génico/genética Telómero/genética |
topic |
Intellectual Disability/genetics Subtelomeric Rearrangements Gene Rearrangement/genetics Telomere/genetics Deficiência Intelectual/genética Rearranjo Génico/genética Telómero/genética |
description |
Introduction: Intellectual disability affects 2% – 3% of the general population, with a chromosomal abnormality being found in 4% – 28% of these patients and a cryptic subtelomeric abnormality in 3% – 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found.Material and Methods: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements.Results: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant.Discussion: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents.Conclusion: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence. |
publishDate |
2019 |
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2019-08-01 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466 oai:ojs.www.actamedicaportuguesa.com:article/11466 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466 |
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oai:ojs.www.actamedicaportuguesa.com:article/11466 |
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eng |
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eng |
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Ordem dos Médicos |
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Acta Médica Portuguesa; Vol. 32 No. 7-8 (2019): July-August; 529-535 Acta Médica Portuguesa; Vol. 32 N.º 7-8 (2019): Julho-Agosto; 529-535 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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