A clinical syndrome associated with dup(5p) |
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Authors: | Alessandra Carnevale,Marisela Hern ndez,Irma Lim n-Toledo,Sara Frí as,Julieta Castillo,Victoria Del Castillo,John M. Opitz |
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Abstract: | We report two cases of dup(5p), both the consequence of an unbalanced segregation of a balanced translocation. Our cases and those previously published suggest that dup(5p) when involving at least a portion of band 5p13 results in a recognizable clinical syndrome of congenital malformations, mental retardation, and growth failure. Although the size of the trisomic segment is different, the patients have a similar phenotype. |
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Keywords: | human chromosomes chromosome 5 duplication 5p |
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