Title: A microduplication of CBP in a patient with mental retardation and a congenital heart defect
Authors: Thienpont, Bernard ×
Breckpot, Jeroen
Holvoet, Maureen
Vermeesch, Joris
Devriendt, Koenraad #
Issue Date: Sep-2007
Series Title: American Journal of Medical Genetics A vol:143A issue:18 pages:2160-2164
Abstract: Rubinstein-Taybi syndrome is a well-characterized genetic syndrome caused by haploinsufficiency of CBP in a majority of individuals. In 10% of cases a microdeletion in 16p13.3 affecting CBP is detected. We report on a patient with a de novo 345-480 kb micro-duplication the region, encompassing only CBP and TRAP1. This boy presented with various minor physical anomalies, moderate mental retardation, and an atrial septal defect, but none of the other typical characteristics of the Rubinstein-Taybi syndrome, such as the broad thumbs and first toes or facial characteristics. This finding implicates CBP as one of the causative genes for the trisomy 16p13 syndrome, and indicates this is a contiguous gene syndrome.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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