title: Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.
abstract: Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. Interestingly, the duplication phenotype overlaps partially with the deletion phenotype. However, his facial phenotype differs from the typical WHS gestalt.
authors.affiliation: Centre for Human Genetics, University Hospital, K.U. Leuven, Herestraat 49, 3000 Leuven, Belgium.
authors.forename: Femke
authors.initials: F
authors.lastname: Hannes
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Drozniewska
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Olga
authors.initials: O
authors.lastname: Haus
mesh_terms: D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D019066:Facies; D020440:Gene Duplication; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D010641:Phenotype; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*