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 15q11-q13 duplication Syndrome

OMIM:608636
Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene Symbolregion 15q11-q13
DNA Changeinv dup(15)
A.A. Change
Exon/Intron
Mutation Typeduplication
ReferenceOuldim K, Natiq A, Jonveaux P, Sefiani A.Tetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorder.
J Biomed Biotechnol. 2007;2007(3):61538.


  Variant not named according to HGVS recommendations