This item still needs to be validated !
Title: Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant
Authors: Lukusa, T ×
Devriendt, Koenraad
Holvoet, M
Fryns, Jean-Pierre #
Issue Date: May-2000
Series Title: American Journal of Medical Genetics vol:91 issue:3 pages:192-7
Abstract: We report on a 31-year-old mentally retarded woman with minor facial anomalies and a heteromorphic chromosome 9 with tandem duplication of the 9p11-q13 pericentromeric region. To the best of our knowledge, this is the first report of tandem duplication of this region. An identical chromosome 9 morphology was found in the healthy and phenotypically normal sister of the proposita. The usefulness of double-color FISH techniques and the presumed mechanism accounting for the origin of the chromosomal anomaly and for the phenotypic discordance observed between the two sisters are discussed.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Laboratory for Genetics of Human Development
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.

© Web of science