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Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome.

We report a female patient with a typical trisomy 18 phenotype who has a 46,XX, -18, +isopseudodic(18)(p11) karotype. The lack of features of the 18p- syndrome suggests that a significant amount of short arm material is present and that the Turner-like features associated with 18p- may be determined...

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Detalhes bibliográficos
Main Authors: Wulfsberg, E A, Sparkes, R S, Klisak, I J, Teng, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1984
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049249/
https://ncbi.nlm.nih.gov/pubmed/6716418
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