Chromosome 15q11-q13 duplication Syndrome
OMIM:608636Mode of inheritance:Autosomal dominant
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | region 15q11-q13 |
|---|---|
| DNA Change | inv dup(15) |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | duplication |
| Reference | Ouldim 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