Title: Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome
Authors: Hammond, Peter ×
Hannes, Femke
Suttie, Michael
Devriendt, Koenraad
Vermeesch, Joris
Faravelli, Francesca
Forzano, Francesca
Parekh, Susan
Williams, Steve
McMullan, Dominic
South, Sarah T
Carey, John C
Quarrell, Oliver #
Issue Date: Jan-2012
Publisher: Karger
Series Title: European Journal of Human Genetics vol:20 issue:1 pages:33-40
Article number: 10.1038/ejhg.2011.135
Abstract: Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf-Hirschhorn syndrome facial phenotype.European Journal of Human Genetics advance online publication, 27 July 2011; doi:10.1038/ejhg.2011.135.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
× corresponding author
# (joint) last author

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