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Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
Clinical outcome: a monosomy 18p is better than a tetrasomy 18p
Jun Wei1, Yingjun Xie, Wenyin He
1Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, PR China.
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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