Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association

Detalhes bibliográficos
Autor(a) principal: Moreira, Lilia Maria de Azevedo
Data de Publicação: 2010
Outros Autores: 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
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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spelling 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. 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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
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv 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
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1002/bdra.20653
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
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