FISH DETECTION OF WOLF-HIRSCHHORN SYNDROME - EXCLUSION OF D4F26 AS CRITICAL SITE

Wolf-Hirschhorn syndrome (WHS) is due to a deletion in the terminal ba nd of 4p16.3. Among loci that have been involved in deletions are D4S9 8, D4S95, D4S125, D4F26, as shown by PCR typing, Southern blot hybridi zation, and/or fluorescent in situ hybridization (FISH). Currently, FI SH detection of WHS is predicated upon the deletion of the D4F26 locus with failure to hybridize to pC847.351, a commercially available cosm id probe. A WHS patient is shown to have an interstitial deletion, by hemizygosity at D4S98 and D4S95 but not at D4F26. This suggests that t he tip of 4p, specifically D4F26, is not a critical deletion site for WHS. (C) 1994 Wiley-Liss, Inc.