Article
Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients.
Cytogenetic and genome research - 1 Jan 2013
Hannachi H, Mougou S, Benabdallah I, Soayh N, Kahloul N, Gaddour N, Le Lorc'h M, Sanlaville D, El Ghezal H, Saad A
Abstract excerpt
We report on the cytogenetic and molecular characterization of a constitutional de novo ring chromosome 22 (r(22)) in 2 unrelated patients with emphasis on different hypotheses proposed to explain the phenotypic variability characterizing this genomic disorder. In both patients, molecular investigations using FISH and array-CGH techniques revealed a 22q terminal deletion involving the 22q13.33 critical region....
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