Several genes in the deleted region appear to play a role in the pathogenesis of<unk><unk> . Haploinsufficiency of RPS14 plays a central role, and contributes to the anemia via both p53-dependent and p53-independent tumor suppressor effects. Other genes at this region include miR-145 and miR-146a, whose deletion is associated with the megakaryocytic dysplasia and thrombocytosis seen in<unk> -<unk> ; SPARC, which has antiproliferative and antiangiogenic effects; and the candidate tumor suppressors EGR1, CTNNA1, and CDC25C.
Chromosome 5q deletion syndrome
Chromosomal deletion syndrome
13q deletion syndrome
22q11.2 distal deletion syndrome
22q11.2 duplication syndrome
22q13 deletion syndrome
1q21.1 deletion syndrome
2q37 deletion syndrome