FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

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J.C. Llerena Jr.; J.C. Cabral de Almeida; E. Bastos; J.A. Crolla;
(2000)

Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation. Fluorescence in situ hybridization (FISH) investigations, however, detected the presence of a cryptic 11p13p14 de... View more