POSSIBLE GENETIC-HETEROGENEITY IN THE SAETHRE-CHOTZEN SYNDROME

Saethre-Chotzen syndrome is an autosomal dominant acrocephalosyndactyl y syndrome whose gene has been assigned to chromosome 7p. Cytogenetic and linkage analyses have enabled the interval encompassing the diseas e gene to be delimited to a short region of chromosome 7p15.3-p21.2. B ased on the genetic analysis of three unreported families, we confirm the location of the disease gene(s) in the interval defined by loci D7 S664 and D7S493 (Z(max) = 4.78 at circle minus = 0 at the D7S488 locus ) but fail to decide whether one or more disease-causing genes map in this genetic interval.