Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality

• Published in: Clinical genetics 1997-12, Vol.52 (6), p.436-441
• Main Authors: Williams, Patricia Gail, Hersh, Joseph H., Yen, Frank F., Barch, Margaret J., Kleinert, Harold E., Kunz, J., Kalff‐Suske, M.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Chromosome Deletion; Chromosomes, Human, Pair 7; Complex syndromes; Craniofacial Abnormalities - genetics; frontal bossing; Greig; Humans; hypotonia; In Situ Hybridization, Fluorescence; Infant; Intellectual Disability - genetics; Male; Medical genetics; Medical sciences; mental retardation; microdeletion; omphalocele; Phenotype; polydactyly; Polydactyly - genetics; syndactyly; Syndactyly - genetics; Syndrome; zinc finger gene; Zinc Fingers - genetics
• ISSN: 0009-9163; 1399-0004
• 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.