March 21, 2024


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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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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