AI Article Synopsis
- Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p, with specific genotype-phenotype correlations identifying a key region responsible for the disorder's main traits.
- A patient with WHS was found to have an interstitial 560 kb duplication in this critical area, suggesting that both deletions and duplications can lead to similar issues like mental retardation and congenital anomalies.
- The clinical features of the duplication partially overlap with those of typical WHS patients, but the facial appearance of this patient is distinct from the typical WHS presentation.
Article 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.
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| http://dx.doi.org/10.1016/j.ejmg.2010.02.004 | DOI Listing |
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