Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)
| Autor: | Ilse Wieland, Petra Muschke, Peter Wieacker, Marianne Volleth, Solveig Schulz |
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| Rok vydání: | 2008 |
| Předmět: |
lcsh:QH426-470
Case Report Chromosomal translocation mental retardation Contiguous gene syndrome Greig syndrome GLI3 Genetics medicine Greig Syndrome Hypertelorism Genetics (clinical) Chromosome 7 (human) Greig cephalopolysyndactyly syndrome lcsh:R5-920 business.industry chromosome deletion Chromosome medicine.disease lcsh:Genetics The Application of Clinical Genetics microdeletion medicine.symptom lcsh:Medicine (General) business |
| Zdroj: | The Application of Clinical Genetics The Application of Clinical Genetics, Vol 2008, Iss default, Pp 19-22 (2008) |
| ISSN: | 1178-704X |
| DOI: | 10.2147/tacg.s4401 |
| Popis: | Solveig Schulz1, Marianne Volleth1, Petra Muschke1, Ilse Wieland1, Peter Wieacker1,21Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Germany; 2Institute of Human Genetics, Westfalian Wilhelms University Münster, GermanyAbstract: We report on a six years old boy with several features of Greig cephalopolysyndactyly syndrome (GCPS) including craniofacial dysmorphism, hypertelorism, heart defect, preaxial hexadactyly of toes, partial agenesis of corpus callosum, and severe developmental delay. Greig cephalopolysyndactyly (GCPS) can be caused by GLI3 deletions. In patients with large deletions which include additional genes, it is termed Greig cephalopolysyndactyly-contiguous gene syndrome (GCPS-CGS). It is generally believed that the deletion size correlates with disease severity. Nearly all cases appear to be a result of GLI3 de novo deletions. Chromosome analysis of our patient revealed a large deletion in chromosome 7(p13–p14). Unlike most previously described cases, we found that this deletion resulted from a paternal balanced insertional translocation of 7p13–14 into the long arm of chromosome 5.Keywords: chromosome deletion, Greig syndrome, mental retardation, microdeletion |
| Databáze: | OpenAIRE |
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