chromosomal inversion inv(X)(p22.3;q13.2)
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Introduction
chromosomal inversion inv(X)(p22.3;q13.2) involving KIAA2022 is found in 2 patients with severe mental retardation the Xq13 breakpoint lies within a predicted intron of KIAA2022 gene KIAA2022 protein is no longer expressed in these patients lymphocytes