Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)

Detalhes bibliográficos
Autor(a) principal: Ramos, Helton Estrela
Data de Publicação: 2012
Outros Autores: Secchi, Luciana A. de A., Mazzeu, Juliana F., Córdoba, Mara Santos, Ferrari, Íris, Neves, Francisco de Assis Rocha
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/15142
Resumo: p. 564-569
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spelling Ramos, Helton EstrelaSecchi, Luciana A. de A.Mazzeu, Juliana F.Córdoba, Mara SantosFerrari, ÍrisNeves, Francisco de Assis Rocha2014-07-07T20:37:06Z2014-07-07T20:37:06Z20120004-2730http://repositorio.ufba.br/ri/handle/ri/15142v. 56, n. 8p. 564-569Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with the transient form of the disease is extremely rare. We report the case of a boy with transient neonatal hypothyroidism that was undiagnosed in the neonatal screening, associated with extrathyroid malformations and mental retardation. The boy carries an unbalanced translocation t(8;16), and his maternal uncle had a similar phenotype. Chromosomal analysis defined the patient's karyotype as 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. Array-CGH with patient's DNA revealed a ~80 kb terminal deletion on chromosome 8q24.3qter, and a ~21 Mb duplication on chromosome 16q22qter. ZNF252 gene, mapped to the deleted region on patient's chromosome 8, is highly expressed in the thyroid, and may be a candidate gene for our patient's transient neonatal thyroid dysfunction. This is the first report on the association of a chromosomal translocation with the transient form of congenital hypothyroidism. This description creates new hypothesis for the physiopathology of transient congenital hypothyroidism, and may also contribute to the definition of the unbalanced translocation t(8;16)(q24.3;q22) phenotype, which has never been described before.Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-05-13T16:24:40Z No. of bitstreams: 1 Helton Estrela Ramos.pdf: 237868 bytes, checksum: 844de9289e212066e8f5f87b6f4843e2 (MD5)Approved for entry into archive by Patricia Barroso (pbarroso@ufba.br) on 2014-07-07T20:37:06Z (GMT) No. of bitstreams: 1 Helton Estrela Ramos.pdf: 237868 bytes, checksum: 844de9289e212066e8f5f87b6f4843e2 (MD5)Made available in DSpace on 2014-07-07T20:37:06Z (GMT). No. of bitstreams: 1 Helton Estrela Ramos.pdf: 237868 bytes, checksum: 844de9289e212066e8f5f87b6f4843e2 (MD5) Previous issue date: 2012http://dx.doi.org/10.1590/S0004-27302012000800017reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBATransient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)Arquivos brasileiros de Endocrinologia e Metabologiainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleBrasilinfo:eu-repo/semantics/openAccessengORIGINALHelton Estrela Ramos.pdfHelton Estrela Ramos.pdfapplication/pdf237868https://repositorio.ufba.br/bitstream/ri/15142/1/Helton%20Estrela%20Ramos.pdf844de9289e212066e8f5f87b6f4843e2MD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/15142/2/license.txt0d4b811ef71182510d2015daa7c8a900MD52TEXTHelton Estrela Ramos.pdf.txtHelton Estrela Ramos.pdf.txtExtracted texttext/plain25580https://repositorio.ufba.br/bitstream/ri/15142/3/Helton%20Estrela%20Ramos.pdf.txtaaf4b8d77147d8aa422949cfb7b3071fMD53ri/151422022-03-09 20:30:28.794oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-03-09T23:30:28Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
dc.title.alternative.pt_BR.fl_str_mv Arquivos brasileiros de Endocrinologia e Metabologia
title Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
spellingShingle Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
Ramos, Helton Estrela
title_short Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
title_full Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
title_fullStr Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
title_full_unstemmed Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
title_sort Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
author Ramos, Helton Estrela
author_facet Ramos, Helton Estrela
Secchi, Luciana A. de A.
Mazzeu, Juliana F.
Córdoba, Mara Santos
Ferrari, Íris
Neves, Francisco de Assis Rocha
author_role author
author2 Secchi, Luciana A. de A.
Mazzeu, Juliana F.
Córdoba, Mara Santos
Ferrari, Íris
Neves, Francisco de Assis Rocha
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Ramos, Helton Estrela
Secchi, Luciana A. de A.
Mazzeu, Juliana F.
Córdoba, Mara Santos
Ferrari, Íris
Neves, Francisco de Assis Rocha
description p. 564-569
publishDate 2012
dc.date.issued.fl_str_mv 2012
dc.date.accessioned.fl_str_mv 2014-07-07T20:37:06Z
dc.date.available.fl_str_mv 2014-07-07T20:37:06Z
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dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/15142
dc.identifier.issn.none.fl_str_mv 0004-2730
dc.identifier.number.pt_BR.fl_str_mv v. 56, n. 8
identifier_str_mv 0004-2730
v. 56, n. 8
url http://repositorio.ufba.br/ri/handle/ri/15142
dc.language.iso.fl_str_mv eng
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dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.country.fl_str_mv Brasil
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1590/S0004-27302012000800017
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