Chromosome 1q21.1 duplication syndrome
Definition:
References:
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[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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