Velocardiofacial Syndrome
The cause of Velocardiofacial Syndrome is unknown. What is known is that it is a genetic disorder. This means that there is a problem with one or more of the genes which are found in every cell of the body that contain the instructions that tell cells what to do. Although the gene or genes that cause Velocardiofacial Syndrome have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22. Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each parent). The location or address of the missing segment in individuals with Velocardiofacial Syndrome is 22q11. As a result of this deletion, some of the genes are absent from this chromosome.
Scientists and physicians know that Velocardiofacial Syndrome is an autosomal dominant disorder. This means that only one parent needs to have the gene for Velocardiofacial Syndrome in order to pass it along to their children. When one of the parents has Velocardiofacial Syndrome the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth. Research has revealed, however, that Velocardiofacial Syndrome is inherited in only about 10 to 15 percent of the cases. In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.
Velocardiofacial Syndrome
OTHER RELATED INFORMATION
The cause of Velocardiofacial Syndrome is unknown. What is known is that it is a genetic disorder. This means that there is a problem with one or more of the genes which are found in every cell of the body that contain the instructions that tell cells what to do. Although the gene or genes that cause Velocardiofacial Syndrome have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22. Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each parent). The location or address of the missing segment in individuals with Velocardiofacial Syndrome is 22q11. As a result of this deletion, some of the genes are absent from this chromosome.
Scientists and physicians know that Velocardiofacial Syndrome is an autosomal dominant disorder. This means that only one parent needs to have the gene for Velocardiofacial Syndrome in order to pass it along to their children. When one of the parents has Velocardiofacial Syndrome the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth. Research has revealed, however, that Velocardiofacial Syndrome is inherited in only about 10 to 15 percent of the cases. In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.
Velocardiofacial Syndrome
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