Williams P G, Hersh J H, Yen F F, Barch M J, Kleinert H E, Kunz J, Kalff-Suske M
Department of Pediatrics, University of Louisville, KY, USA.
Clin Genet. 1997 Dec;52(6):436-41. doi: 10.1111/j.1399-0004.1997.tb02565.x.
A male had several features of Greig cephalopolysyndactyly syndrome (GCPS) and significant developmental delay. He was found to have a de novo chromosomal deletion of chromosome no. 7 involving p13; this resulted in loss of the zinc finger gene, GLI3, which is the candidate gene in this syndrome. Modification of the CGPS phenotype in a sporadic case emphasizes the importance of searching for a chromosomal origin of this autosomal dominant disorder. Detection of a chromosomal deletion in these patients may be associated with a poor prognosis from the standpoint of cognitive development, and the potential for other structural abnormalities not normally associated with GCPS.
