Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

Abstract excerpt

Editor—Wolf-Hirschhorn syndrome (WHS), first described independently in 1965 by Wolf et al 1 and Hirschhorn et al ,2 is a well defined multiple congenital anomalies/mental retardation syndrome resulting from deletion involving chromosomal band 4p16.3 with a minimal critical region of 165 kb.3 Different mechanisms are responsible for WHS, including terminal 4p deletions, familial translocations, and de novo...