Chromosome 17q21.31 duplication syndrome

OMIM:613533
Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	region 17q21.31
DNA Change	485kb duplication
A.A. Change
Exon/Intron
Mutation Type	duplication
Reference	Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M.A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet. 2007 Jul-Aug;50(4):256-63.

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  Variant not named according to HGVS recommendations