Duplications of<unk>  vary in size and thereby in gene content. They include the typical common 3-Mb microduplication, 1.5-Mb nested duplication, consistent with non-allelic homologous recombination (NAHR) using distinct low-copy repeats. These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the<unk> .2 region. Smaller microduplications may occur within this highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates within and distal to the DiGeorge syndrome region. Origin of duplication The majority of<unk>  duplications are inherited often from a parent with a normal or near-normal phenotype. This is in sharp distinction to<unk>  deletion syndrome where about 90% of cases are caused by mutations that occur de novo.
22q11.2 duplication syndrome
13q deletion syndrome
22q13 deletion syndrome
2q37 deletion syndrome
22q11.2 distal deletion syndrome
Chromosome 5q deletion syndrome
1q21.1 deletion syndrome
8p23.1 duplication syndrome