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  • Title: Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.
    Author: Wei J, Xie Y, He W, Liu W, Jian W, Chen M, Wang D, Wang X, Sun X.
    Journal: Cytogenet Genome Res; 2014; 144(4):294-8. PubMed ID: 25634515.
    Abstract:
    We report the clinical and laboratory data of 2 patients with different rearrangements involving the short arm of chromosome 18, one with an isochromosome 18p (tetrasomy 18p) and the other with an 18p deletion (monosomy 18p by translocation t(15;18)). Based on molecular cytogenetic findings including high-resolution SNP array, FISH, and multiplex fluorescence PCR, we compared the clinical phenotypes of the 2 patients with other reported patients with 18p deletion, trisomy 18, and isochromosome 18p syndromes to obtain genotype/phenotype correlations. Our findings suggest that a partial monosomy 18p has the better clinical outcome than a tetrasomy 18p.
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