Tag

chromosome 5 duplication

02
Apr

5q35 Duplication

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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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