Mosaic tetrasomy 8p in two patients: clinical data and review of the literature
Schrander-Stumpel, C T × Govaerts, L C Engelen, J J van der Blij-Philipsen, M Borghgraef, M Loots, W J Peters, J J Rijnvos, W P Smeets, D F Fryns, Jean-Pierre #
American Journal of Medical Genetics vol:50 issue:4 pages:377-80
We report on 2 girls with mosaic tetrasomy 8p. Patient 1 showed the extra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultured fibroblasts [46,XX/47,XX,+i(8p)]. She presented with growth retardation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial alterations; she had the extra iso 8p chromosome in 94% of cultured peripheral lymphocytes. The patients are compared to the 6 previously reported cases. In our experience, the presently reported patients clinically resemble children with inv dup(8)(p21-p22) and patients with mosaic trisomy 8.