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An estimated 7 - 10% of patients with this syndrome have a defect in a gene called the maternal uniparental disomy (UPD) for chromosome 7. However, a cause cannot be identified in most patients.
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The exact genetic cause, or causes, of RSS have not been fully identified. It is currently believed that almost all cases of RSS are the result of mutations on a gene, or possibly more than one gene, on chromosome 7.
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The exact genetic cause, or causes, of RSS have not been fully identified in early 2001. It is currently believed that almost all cases of RSS are the result of mutations on a gene, or possibly more than one gene, on chromosome 7.
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