April 2, 2024


6q25.1 Deletion

6q25.1 Deletion Deletions of the 6q25.1 region of the long arm of chromosome 6 constitute a specific syndrome. The main findings of this condition are defects of cardiac valves caused by the loss of the TAB2 gene, which is located in this segment. The protein encoded by the TAB2 gene...
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5q35 Duplication

5q35 Duplication Segment q35 on the long arm of chromosome 5, when deleted, causes Sotos syndrome. Individuals with Sotos syndrome are characterized by overgrowth, accelerated bone age, and learning difficulties. Interestingly, when this same region is duplicated rather than deleted, a “reverse Sotos” syndrome is present1. Characterized by short stature,...
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