Chromosome 1q21.1 duplication syndrome

Definition:

Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants are associated with highly variable phenotypes. Individuals with 1q21.1 deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference. Increased prevalence of macrocephaly is observed in the duplication carriers.

References:

[1]. Heather C Mefford, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008 Oct 16;359(16):1685-99. [Content Brief]

[2]. Nicola Brunetti-Pierri, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71. [Content Brief]

[3]. Raphael Bernier, et al. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr;18(4):341-9. [Content Brief]

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