Category

Brochures

02
Apr

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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02
Apr

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 ‚Äúreverse Sotos‚ÄĚ syndrome is present1. Characterized by short stature,...
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21
Mar

8p11 Deletions

8p11 Deletions Segment 8p11 is the area of the short arm of chromosome 8 closest to the centromere. This segment includes at least 3 clinically important genes: SLC20A2, ANK1, and FGFR1. Each of these genes has their own separate functions and is causal of specific clinical features. Deletions of this...
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21
Mar

6q26-6q27 Deletions

Deletions 6q26-6q27 Bands 6q26 and 6q27 are the most distal segments of the long arm of chromosome 6. Many patients have been identified as having deletions in this area. Isolated deletions of  6q26 are interstitial, while deletions involving 6q27 are mostly terminal. A majority of these deletions occur de novo,...
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20
Mar

5q14.3 Deletion

5q14.3 Deletion (MEF2C Deficiency Syndrome) The segment 5q14 in the proximal part of the long arm of chromosome 5 contains many important neural genes, including the MEF2C gene, located at 5q14.3. Deletions of this gene causes a complex of neurodevelopmental problems including intellectual disability, developmental delay and seizures. MEF2C, a...
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