No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in “Mirror” duplications of chromosome 21

Three Down syndrome patients for whom karyotypic analysis showed a “mirror” (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently l...

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Bibliografische gegevens
Hoofdauteurs: Pangalos, Constantinos, Théophile, Didier, Sinet, Pierre-Marie, Marks, Alexander, Stamboulieh-Abazis, Danai, Chettouh, Zoubida, Prieur, Marguerite, Verellen, Christine, Rethoré, Marie-Odile, Lejeune, Jérôme, Delabar, Jean-Maurice
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1992
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682936/
https://ncbi.nlm.nih.gov/pubmed/1463008
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