Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFBA |
Texto Completo: | http://repositorio.ufba.br/ri/handle/ri/13503 |
Resumo: | Texto completo: acesso restrito. p.228-231 |
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Moreira, Lilia Maria de AzevedoMatos, Marcos A.Schiper, Patricia P.Carvalho, Acácia Fernandes Lacerda deGomes, Ivalda C.Rolemberg, José C.Lima, Renata Lúcia Leite Ferreira deToralles, Maria Betânia PereiraMoreira, Lilia Maria de AzevedoMatos, Marcos A.Schiper, Patricia P.Carvalho, Acácia Fernandes Lacerda deGomes, Ivalda C.Rolemberg, José C.Lima, Renata Lúcia Leite Ferreira deToralles, Maria Betânia Pereira2013-11-01T19:49:13Z20101542-0752http://repositorio.ufba.br/ri/handle/ri/13503v. 88, n. 4Texto completo: acesso restrito. p.228-231BACKGROUND: This report describes the sixth case of an unusual association: Down syndrome with achondroplasia. It also analyzes the effects of both of these disorders on patient phenotype. METHODS: A male infant was evaluated for Down syndrome. His appearance also suggested a diagnosis of achondroplasia. The child was evaluated by physical examination, radiography, cytogenetic study, and mutation analysis. RESULTS: Chromosome analysis showed a karyotype of 47,XY,+21 in all 30 cells analyzed. Radiographic examination showed typical findings of achondroplasia, such as disproportionately large skull, shortening of limb segments, and lumbar lordosis. FGFR3 screening showed a heterozygous G1138A mutation. CONCLUSIONS: The interaction of these two distinct genetic disorders in the same patient produces a phenotype typical of each syndrome with some overlapping signs. This case represents de novo origin of two disorders that both may be parental-age related. Birth Defects Research (Part A) 2010. © 2010 Wiley-Liss, Inc.Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-09-04T11:03:20Z No. of bitstreams: 1 Lilia Moreira.pdf: 163650 bytes, checksum: de3f898045da325ac376fb00ea7be61f (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-01T19:49:13Z (GMT) No. of bitstreams: 1 Lilia Moreira.pdf: 163650 bytes, checksum: de3f898045da325ac376fb00ea7be61f (MD5)Made available in DSpace on 2013-11-01T19:49:13Z (GMT). No. of bitstreams: 1 Lilia Moreira.pdf: 163650 bytes, checksum: de3f898045da325ac376fb00ea7be61f (MD5) Previous issue date: 2010http://dx.doi.org/10.1002/bdra.20653reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBADown syndromeAchondroplasiaAdvanced paternal ageAdvanced maternal ageDisease interactionCo-occurrence of achondroplasia and Down syndrome: genotype/phenotype associationBirth Defects Research Part A: Clinical and Molecular Teratologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINALLilia Moreira.pdfLilia Moreira.pdfapplication/pdf163650https://repositorio.ufba.br/bitstream/ri/13503/1/Lilia%20Moreira.pdfde3f898045da325ac376fb00ea7be61fMD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/13503/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXTLilia Moreira.pdf.txtLilia Moreira.pdf.txtExtracted texttext/plain15333https://repositorio.ufba.br/bitstream/ri/13503/3/Lilia%20Moreira.pdf.txt16366b63c9c55b05a73d0964db43e6c9MD53ri/135032022-07-05 14:03:00.935oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false |
dc.title.pt_BR.fl_str_mv |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
dc.title.alternative.pt_BR.fl_str_mv |
Birth Defects Research Part A: Clinical and Molecular Teratology |
title |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
spellingShingle |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association Moreira, Lilia Maria de Azevedo Down syndrome Achondroplasia Advanced paternal age Advanced maternal age Disease interaction |
title_short |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
title_full |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
title_fullStr |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
title_full_unstemmed |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
title_sort |
Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
author |
Moreira, Lilia Maria de Azevedo |
author_facet |
Moreira, Lilia Maria de Azevedo Matos, Marcos A. Schiper, Patricia P. Carvalho, Acácia Fernandes Lacerda de Gomes, Ivalda C. Rolemberg, José C. Lima, Renata Lúcia Leite Ferreira de Toralles, Maria Betânia Pereira |
author_role |
author |
author2 |
Matos, Marcos A. Schiper, Patricia P. Carvalho, Acácia Fernandes Lacerda de Gomes, Ivalda C. Rolemberg, José C. Lima, Renata Lúcia Leite Ferreira de Toralles, Maria Betânia Pereira |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Moreira, Lilia Maria de Azevedo Matos, Marcos A. Schiper, Patricia P. Carvalho, Acácia Fernandes Lacerda de Gomes, Ivalda C. Rolemberg, José C. Lima, Renata Lúcia Leite Ferreira de Toralles, Maria Betânia Pereira Moreira, Lilia Maria de Azevedo Matos, Marcos A. Schiper, Patricia P. Carvalho, Acácia Fernandes Lacerda de Gomes, Ivalda C. Rolemberg, José C. Lima, Renata Lúcia Leite Ferreira de Toralles, Maria Betânia Pereira |
dc.subject.por.fl_str_mv |
Down syndrome Achondroplasia Advanced paternal age Advanced maternal age Disease interaction |
topic |
Down syndrome Achondroplasia Advanced paternal age Advanced maternal age Disease interaction |
description |
Texto completo: acesso restrito. p.228-231 |
publishDate |
2010 |
dc.date.issued.fl_str_mv |
2010 |
dc.date.accessioned.fl_str_mv |
2013-11-01T19:49:13Z |
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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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http://repositorio.ufba.br/ri/handle/ri/13503 |
dc.identifier.issn.none.fl_str_mv |
1542-0752 |
dc.identifier.number.pt_BR.fl_str_mv |
v. 88, n. 4 |
identifier_str_mv |
1542-0752 v. 88, n. 4 |
url |
http://repositorio.ufba.br/ri/handle/ri/13503 |
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eng |
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