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Title: Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Authors: Thienpont, Bernard
Béna, Frédérique
Breckpot, Jeroen
Philip, Nicole
Menten, Björn
Van Esch, Hilde
Scalais, Emmanuel
Salamone, Jessica
Fong, Chin-To
Kussmann, Jennifer L
Grange, Dorothy K
Gorski, Jerome
Zahir, Farah
Yong, Siu Li
Morris, Michael M
Gimelli, Stefania
Fryns, Jean-Pierre
Mortier, Geert
Friedman, Jan M
Villard, Laurent
Bottani, Armand
Vermeesch, Joris
Cheung, Sau Wai
Devriendt, Koenraad # ×
Issue Date: Mar-2010
Publisher: BMJ Publishing Group
Series Title: Journal of Medical Genetics vol:47 issue:3 pages:155-161
Abstract: The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. Such duplications have a recognizable phenotype, characterized by normal to moderately retarded mental development, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features. Occasionally, developmental defects of the heart, genitalia, palate or the eyes are observed. The critically duplicated region encompasses a single gene, CREBBP, which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, the duplication arose de novo, demonstrating the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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