Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality |
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Authors: | Patricia Gail Williams Joseph H Hersh Frank F Yen Margaret J Barch Harold E Kleinert J Kunz M Kalff-Suske |
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Institution: | Department of Pediatrics;Department of Cytogenetics Laboratory;Department of Surgery, University of Louisville, KY, USA;Medizinisches Zentrum für Humangenetik, Phillipps-Universität Marburg, Germany |
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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. |
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Keywords: | chromosome deletion frontal bossing Greig hypotonia mental retardation microdeletion omphalocele polydactyly syndactyly zinc finger gene |
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