Article
Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.
Cytogenetic and genome research - 1 Jan 2011
Guilherme R Santos, Bragagnolo S, Pellegrino R, Christofolini D M, Takeno S S, Carvolheira G M, Kulikowski L Domenici, Melaragno M I
Abstract excerpt
Ring chromosome 3 is a rare abnormality with only 10 patients described in the literature. We report a patient with r(3) and ∼6-Mb distal 3p deletion. Single nucleotide polymorphism array, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization techniques revealed that the ring was formed by a break in 3p26.1 and fusion with the subtelomeric region of 3q. The patient presents...
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