DK-PHOCOMELIA PHENOTYPE (VONVOSS-CHERSTVOY-SYNDROME) CAUSED BY SOMATIC MOSAICISM FOR DEL(13Q)

DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition charac terized by radial ray defects, occipital encephalocoele, and urogenita l abnormalities, Lubinsky et al. [1994: Am J Med Genet 52:272-278] poi nted out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chrom osomally, We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for d el(13)(q12), Fibroblast chromosomes studies on other cases of DK phoco melia have not been reported: this raises the possibility that some ca ses of DK phocomelia may be somatic mosaics for del(13)(q12). (C) 1997 Wiley-Liss, Inc.