Article
Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.
Human genetics - 1 Nov 2008
de Carvalho Acácia Fernandes Lacerda, da Silva Bellucco Fernanda Teixeira, Kulikowski Leslie Domenici, Toralles Maria Betânia Pereira, Melaragno Maria Isabel
Abstract excerpt
A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a t(5;15)(p13.3;p12) translocation is reported. The translocation was present in four generations with eight balanced carriers. This is the first molecular-cytogenetic and clinical study with both syndromes present in the same family. Using fluorescence in situ hybridization (FISH) with bacterial artificial...
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