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1q21.1 deletion syndrome is a rare aberration of chromosome 1.A human cell has one pair of identical chromosomes on chromosome 1.With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the chromosome is missing.
1q21.1 duplication syndrome arises from microduplications of the BP3-BP4 region, containing at least seven genes and a minimum duplicated region of ~1.2 Mb of unique DNA sequence. [ 7 ] 1q21.1 duplication syndrome has an autosomal dominant inheritance pattern, where 18–50% of deletions happen de novo and 50–82% are inherited from their parents.