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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.

Original publication

DOI

10.1038/ejhg.2011.135

Type

Journal article

Journal

Eur J Hum Genet

Publication Date

01/2012

Volume

20

Pages

33 - 40

Keywords

Adolescent, Adult, Case-Control Studies, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 4, Facial Asymmetry, Female, Genetic Association Studies, Humans, Hypertelorism, Image Processing, Computer-Assisted, Infant, Linear Models, Male, Pattern Recognition, Automated, Phenotype, Principal Component Analysis, Receptor, Fibroblast Growth Factor, Type 5, Translocation, Genetic, Wolf-Hirschhorn Syndrome, Young Adult