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Title: Triplication of distal chromosome 10q
Authors: Devriendt, Koenraad ×
Matthijs, Gert
Holvoet, M
Schoenmakers, Erik
Fryns, Jean-Pierre #
Issue Date: Jun-1999
Series Title: Journal of Medical Genetics vol:36 issue:3 pages:242-5
Abstract: We describe a patient with a de novo chromosomal aberration with karyotype 46,XY,10q+, presenting clinical features of partial duplication of distal chromosome 10q. Further studies using microsatellites and FISH showed a triplication of distal chromosome 10q. The rearrangement involved both maternal homologues and the middle chromosomal 10q fragment of the triplication was inverted, similar to previously reported chromosomal triplications. Chromosomal triplications may be more frequent than assumed and may share a common molecular mechanism.
ISSN: 0022-2593
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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