MOSAIC TETRASOMY 8P IN 2 PATIENTS - CLINICAL-DATA AND REVIEW OF THE LITERATURE

We report on 2 girls with mosaic tetrasomy 8p, Patient 1 showed the ex tra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultur ed fibroblasts 46,XX/47,XX, +i(8p). She presented with growth retard ation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial al terations; she had the extra iso 8p chromosome in 94% of cultured peri pheral lymphocytes. The patients are compared to the 6 previously repo rted cases. In our experience, the presently reported patients clinica lly resemble children with inv dup(8)(p21-p22) and patients with mosai c trisomy 8. (C) 1994 Wiley-Liss, Inc.