Wolf-Hirschhorn syndrome (WHS; OMIM#194190) is a contiguous gene deletion syndrome affecting the terminal region of 4p [1–4]. Deletion 4p was first described in 1961 by Cooper and Hirschhorn in a child with defects of midline fusion, low birth weight, poor development, and seizures beginning soon after birth [5]. The partial monosomy in that patient represented the first example of such an observation in humans and consisted of the deletion of more than half of the short arm of chromosome 4 [5].
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