What genetic feature is associated with Russell Silver Syndrome?

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Russell Silver Syndrome is primarily associated with maternal imprinting of genes on chromosome 11. This syndrome is a form of growth restriction that can be linked to abnormalities in genomic imprinting, where certain genes are expressed in a parent-of-origin-specific manner. In the case of Russell Silver Syndrome, it is often due to abnormal expression of genes because of maternal imprinting.

The key genes related to this condition are located in the 11p15 region, where normally one copy of the gene, typically inherited from the father, is expressed, while the other copy inherited from the mother remains silent due to imprinting. In this syndrome, the lack of expression from the maternal allele leads to the growth deficiency and other characteristic features observed in patients.

This understanding is crucial in genetic counseling, as it highlights the importance of parental contributions to genomic imprinting and how they can affect the growth and development of the child.

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