Diploid/triploid mosaicism: further delineation of the phenotype.

Carakushansky, G; Teich, E; Ribeiro, M G; Horowitz, D D; Pellegrini, S

Carakushansky, G; Teich, E; Ribeiro, M G; Horowitz, D D; Pellegrini, S.

Afiliação

Carakushansky G; Department of Pediatrics, School of Medicine, Federal University of Rio de Janeiro, Brazil.

Am J Med Genet ; 52(4): 399-401, 1994 Oct 01.

Article em En | MEDLINE | ID: mdl-7747751

RESUMO

Here we report on a girl with diploid/triploid mosaicism followed up to age 5 years. The clinical manifestations are compared to those of other reported cases. In contrast to most cases, our patient was not growth retarded despite severe delays in psychomotor development. We also discuss 2 manifestations that have not received sufficient attention in previous reports: pigmentary dysplasia and truncal obesity.

Assuntos

Diploide; Mosaicismo/genética; Mosaicismo/patologia; Poliploidia; Pré-Escolar; Citogenética; Feminino; Transtornos do Crescimento/genética; Humanos; Linfócitos/patologia

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Poliploidia / Diploide / Mosaicismo Limite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet Ano de publicação: 1994 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos

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