This item still needs to be validated !
Title: Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype
Authors: Vermeesch, Joris ×
Melotte, Cindy
Salden, Ivo
Riegel, Mariluce
Trifnov, Vladimir
Polityko, Anna
Rumyantseva, Natalia
Naumchik, Irina
Starke, Heike
Matthijs, Gert
Schinzel, Albert
Fryns, Jean-Pierre
Liehr, Thomas #
Issue Date: Jul-2005
Series Title: European Journal of Medical Genetics vol:48 issue:3 pages:319-327
Abstract: A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
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