Article
Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.
Clinical dysmorphology - 1 Oct 2003
Leube Barbara, Majewski Frank, Drechsler Matthias, Royer-Pokora Brigitte
Abstract excerpt
We investigated a girl with dysmorphic features and moderate developmental delay by subtelomeric FISH (fluorescence in-situ hybridization). We found an unbalanced cryptic translocation, t(9;14)(q34.3;q32.33), resulting in a subtelomeric deletion of 14q and duplication of 9q deriving from a balanced translocation in the mother. A review of the literature suggests that the phenotype of our case is related to the 14...
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