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Eur J Med Genet. 2010 May-Jun;53(3):136-40. doi: 10.1016/j.ejmg.2010.02.004. Epub 2010 Mar 1.

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

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Centre for Human Genetics, University Hospital, K.U. Leuven, Herestraat 49, 3000 Leuven, Belgium.


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.

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