Title: Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20)
Authors: Devriendt, Koenraad ×
Matthijs, Gert
Meireleire, J
Roelen, L
Van Buggenhout, Griet
Fryns, Jean-Pierre #
Issue Date: 1998
Series Title: Genetic Counseling vol:9 issue:4 pages:283-6
Abstract: We present a patient with profound mental retardation, epilepsy, facial dysmorphism and multiple skin hyper- and depigmentation areas. Karyotype in white blood cells was normal female, whereas in cultured skin fibroblasts originating from a depigmentated area, mosaic 48,XX,+18,+20 was found. Molecular analyses using polymorphic microsatellites showed a different origin of both additional chromosomes: maternal for the chromosome 20, paternal for chromosome 18. This, together with a mosaic state is consistent with a double postzygotic error in chromosome segregation possibly occurring in a single cell division.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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