PATIENT WITH AN XP21 CONTIGUOUS GENE DELETION SYNDROME IN ASSOCIATIONWITH AGENESIS OF THE CORPUS-CALLOSUM

The so-called Xp21 contiguous deletion syndrome or complex glycerol ki nase deficiency (GKD) usually presents with classical Duchenne muscula r dystrophy (DMD) or a milder dystrophic myopathy, adrenal hypoplasia, and GKD. A number of syndromic and nonsyndromic cases of agenesis of the corpus callosum (ACC) also map to that location, To date, none of the cases of complex GKD have been associated with ACC, Here, we repor t on a patient with a complex phenotype as a result of the Xp21 contig uous deletion syndrome in association with ACC. Biochemical, cytogenet ic, and molecular analyses were performed to detect and establish the size of the genomic deletion, It is at least 3 million base pairs in l ength; however, exact limits could not be determined in the present st udy, Nevertheless, we suggest the presence of a primary gene involved in the embryogenesis of the corpus callosum between Xp21.1 and Xp22.11 . (C) 1997 Wiley-Liss, Inc.