MeSH Browser

MeSH Supplementary: Duplication 15q11-q13 Syndrome
Unique ID: C557830
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C557830
Entry Term(s): 15q11.2 microdeletion; Chromosome 15q11-q13 Duplication Syndrome; Chromosome 15q11.2 deletion syndrome; Microdeletion 15q11.2
Registry Number: 0
Heading Mapped to: *Chromosome Aberrations; Chromosomes, Human, Pair 15; *Intellectual Disability
Frequency: 52
Note: Autosomal dominant abnormalities of chromosome 15q: features of the chromosome 15q11-q13 duplication syndrome include AUTISM SPECTRUM DISORDER; INTELLECTUAL DISABILITY; ATAXIA, seizures, developmental delays, and behavioral problems. OMIM: 608636. A heterozygous deletion of chromosome 15q11.2 may increase the susceptibility to neuropsychiatric or neurodevelopmental problems, including delayed psychomotor development, speech delay, ATTENTION DEFICIT-HYPERACTIVITY DISORDER; OBSESSIVE-COMPULSIVE DISORDER, and possibly seizures. OMIM: 615656
Date of Entry: 2011/06/24
Revision Date: 2015/09/26

Duplication 15q11-q13 Syndrome MeSH Supplementary Concept Data 2024