title: Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Louisville, KY, USA.
authors.forename: P G
authors.initials: PG
authors.lastname: Williams
authors.forename: J H
authors.initials: JH
authors.lastname: Hersh
authors.forename: F F
authors.initials: FF
authors.lastname: Yen
authors.forename: M J
authors.initials: MJ
authors.lastname: Barch
authors.forename: H E
authors.initials: HE
authors.lastname: Kleinert
authors.forename: J
authors.initials: J
authors.lastname: Kunz
authors.forename: M
authors.initials: M
authors.lastname: Kalff-Suske
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D019465:Craniofacial Abnormalities / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D016335:Zinc Fingers / Q000235:genetics