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Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11).

A boy with a de novo translocation (5;22) and isochromosome 5p associated with a pericentric inversion of chromosome 2 (p21q11) is described. The pericentric inversion was also present in the mother. The main clinical features of the 'complete trisomy 5p' syndrome were present in the proba...

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Detalhes bibliográficos
Main Authors: Orye, E, Benoit, Y, van Mele, B
Formato: Artigo
Idioma:Inglês
Publicado em: 1983
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049160/
https://ncbi.nlm.nih.gov/pubmed/6644772
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