Title: Partial trisomy and monosomy 8p due to inversion duplication
Authors: Engelen, J J ×
de Die-Smulders, C E
Fryns, Jean-Pierre
Hoovers, J M
Albrechts, J C
Loots, W J
Jacobs, M E
Hamers, A J #
Issue Date: Apr-1994
Publisher: Munksgaard
Series Title: Clinical Genetics vol:45 issue:4 pages:203-7
Abstract: Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studied using G-banding techniques, chromosome painting and FISH with cosmid probes specific for the region 8p23.1-->8pter. In all cases we found a partial inversion duplication of 8p along with a deletion of the region 8p23.1-->8pter.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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