Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Chromosome 17q21.31 duplication syndrome

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


Gene Symbolregion 17q21.31
DNA Change485kb duplication
A.A. Change
Mutation Typeduplication
ReferenceKirchhoff 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.

  Variant not named according to HGVS recommendations