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.
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Acknowledgements
We offer of sincere thanks to all of the families who volunteered for the study and allowed their faces to be scanned. The WHS family support groups of the United Kingdom, and United States of America deserve special thanks for their continued co-operation and hospitality during this long study. NewLife and the National Institutes of Health generously provided financial support that enabled several generations of 3D cameras to be purchased and many field trips to be undertaken. We also thank Dr Helen Cox for comments on the manuscript and the Sheffield Children's appeal for travel grants to OQ.
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Hammond, P., Hannes, F., Suttie, M. et al. Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome. Eur J Hum Genet 20, 33–40 (2012). https://doi.org/10.1038/ejhg.2011.135
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DOI: https://doi.org/10.1038/ejhg.2011.135
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