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