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 (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.
Williams
P G
PG
Department of Pediatrics, University of Louisville, KY, USA.
Hersh
J H
JH
Yen
F F
FF
Barch
M J
MJ
Kleinert
H E
HE
Kunz
J
J
Kalff-Suske
M
M
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