Many people have Gardners Syndrome and most of the time it is inherited by family. Rarely is a person born without a family member having had it. The effects of this syndrome can affect a person in many ways especially after the surgery needed to treat it. After the surgery the person in most cases will have a counselor to help deal with the syndrome. there are many risks that come along with having this syndrome.
Gardners Syndrome is a rare form of Familial Adenomatous Polyposis characterized in the development of hundreds or thousands of polyps in the large intestine and duodenum, along with various types of tumors both benign and malignant. This Syndrome follows an autosomal dominant gene inheritance pattern, which a mutation happens in one copy of the gene (healthline). This means that either parent with this gene mutation will pass either their normal gene or the mutated gene along; therefore, leaving the child a 50% chance of being born without the mutation in their genes.(Cancer)
The cause of the Gardner Syndrome is the APC gene mutation. The …show more content…
Diagnosis for the Gardners syndrome is based on suggestive family history and clinical findings. If possible genetic testing results are recommended for the diagnosis of Gardner’s Syndrome as it is more reliable and accurate than suggestive diagnosis. Sometimes diagnosis may be based on a physician’s suspicion and awareness. The patient may be asymptomatic and obtain a family history of the syndrome (Half, Elizabeth; Dani Bercovich; Pail Rozen). For diagnosis genetic testing has become available for the APC gene, that of which known to cause the Gardners Syndrome. Clinics now have Carrier testing for at risk relatives and prenatal testing are possible if the mutation in the family is known. In order to get diagnosed you need to have at least 100 colorectal polyps or fewer than 100 polyps AND a family member, osteomas, and/or soft tissue tumors.(Rare
Gardners Syndrome is a rare form of Familial Adenomatous Polyposis characterized in the development of hundreds or thousands of polyps in the large intestine and duodenum, along with various types of tumors both benign and malignant. This Syndrome follows an autosomal dominant gene inheritance pattern, which a mutation happens in one copy of the gene (healthline). This means that either parent with this gene mutation will pass either their normal gene or the mutated gene along; therefore, leaving the child a 50% chance of being born without the mutation in their genes.(Cancer)
The cause of the Gardner Syndrome is the APC gene mutation. The …show more content…
Diagnosis for the Gardners syndrome is based on suggestive family history and clinical findings. If possible genetic testing results are recommended for the diagnosis of Gardner’s Syndrome as it is more reliable and accurate than suggestive diagnosis. Sometimes diagnosis may be based on a physician’s suspicion and awareness. The patient may be asymptomatic and obtain a family history of the syndrome (Half, Elizabeth; Dani Bercovich; Pail Rozen). For diagnosis genetic testing has become available for the APC gene, that of which known to cause the Gardners Syndrome. Clinics now have Carrier testing for at risk relatives and prenatal testing are possible if the mutation in the family is known. In order to get diagnosed you need to have at least 100 colorectal polyps or fewer than 100 polyps AND a family member, osteomas, and/or soft tissue tumors.(Rare