GREIG CEPHALOPOLYSYNDACTYLY SYNDROME - ALTERED PHENOTYPE OF A MICRODELETION SYNDROME DUE TO THE PRESENCE OF A CYTOGENETIC ABNORMALITY

A male had several features of Greig cephalopolysyndactyly syndrome (G CPS) and significant developmental delay. He was found to have a de no vo chromosomal deletion of chromosome no. 7 involving p13; this result ed in loss of the zinc finger gene, GLI3, which is the candidate gene in this syndrome. Modification of the CGPS phenotype in a sporadic cas e emphasizes the importance of searching for a chromosomal origin of t his autosomal dominant disorder. Detection of a chromosomal deletion i n these patients may be associated with a poor prognosis from the stan dpoint of cognitive development, and the potential for other structura l abnormalities not normally associated with GCPS.