PARENTAL ORIGIN OF CHROMOSOME-4P DELETION IN WOLF-HIRSCHHORN SYNDROME

We report on molecular studies in 7 patients with Wolf-Hirschhorn synd rome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the ab sence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal ori gin of the de novo 4p chromosome deletion. The overall results of mole cular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differenc es between the mechanisms of sperm and egg production. (C) 1993 Wiley- Liss, Inc.