Title: Mosaic tetrasomy 8p in two patients: clinical data and review of the literature
Authors: 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 #
Issue Date: May-1994
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:50 issue:4 pages:377-80
Abstract: 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.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.