Monosomy 20 Mosaicism Revealed by Extensive Karyotyping in Blood and Skin Cells: Case Report and Review of the Literature

Abstract excerpt

We describe a 13-year-old boy with developmental delay and proximal muscle weakness who has monosomy 20 mosaicism in blood and skin cells. Because of asymmetric features (difference in foot size, slightly asymmetric intergluteal cleft), we performed extensive cytogenetic studies in peripheral blood and skin. In cultured and uncultured blood lymphocytes, we found 0.9 and 6.5% of cells with monosomy 20,...

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