Pg. Williams et al., GREIG CEPHALOPOLYSYNDACTYLY SYNDROME - ALTERED PHENOTYPE OF A MICRODELETION SYNDROME DUE TO THE PRESENCE OF A CYTOGENETIC ABNORMALITY, Clinical genetics, 52(6), 1997, pp. 436-441
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.