11
Sep
Wisconsin Syndrome
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Wisconsin Syndrome Wisconsin Syndrome is caused by deletions of the q25 segment on the long arm of chromosome 3. Deletions of 3q25 are relatively rare, but there are established criteria required for an individual to receive a diagnosis of Wisconsin Syndrome1. An individual must present with four of the following... Read More
11
Sep
1q41 Deletion Involving the TGFβ Gene
1q41 Deletion Involving the TGFβ Gene Deletions of 1q41 are not very common, but individuals may present as a well characterized syndrome: Loeys-Dietz Syndrome (LDS). LDS is caused by variants in the gene TGFβ, which is located within the 1q41 segment1. Although LDS is a well characterized connective tissue disorder... Read More
