Por favor, use este identificador para citar o enlazar este ítem:
https://repositorio.ufba.br/handle/ri/13503
metadata.dc.type: | Artigo de Periódico |
Título : | Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association |
Otros títulos : | Birth Defects Research Part A: Clinical and Molecular Teratology |
Autor : | 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 |
metadata.dc.creator: | 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 |
Resumen : | BACKGROUND: 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. |
Palabras clave : | Down syndrome Achondroplasia Advanced paternal age Advanced maternal age Disease interaction |
metadata.dc.rights: | Acesso Aberto |
URI : | http://repositorio.ufba.br/ri/handle/ri/13503 |
Fecha de publicación : | 2010 |
Aparece en las colecciones: | Artigo Publicado em Periódico (Biologia) |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
Lilia Moreira.pdf | 159,81 kB | Adobe PDF | Visualizar/Abrir |
Los ítems de DSpace están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.