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16p11.2 Deletion Syndrome MeSH Supplementary Concept Data 2022


MeSH Supplementary
16p11.2 Deletion Syndrome
Unique ID
C579850
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C579850
Registry Number
0
Heading Mapped to
*Autistic Disorder
*Chromosome Deletion
Chromosomes, Human, Pair 16
*Intellectual Disability
*Chromosome Disorders
Frequency
72
Note
Microdeletions of approximately 550-600 kilobases in the region of chromosome 16p11.2. Deletions may occur in about 1% of patients with autism spectrum disorder, and are also associated with early-onset obesity, intellectual disability, and congenital abnormalities. OMIM: 611913
Date of Entry
2013/10/24
Revision Date
2016/09/29
16p11.2 Deletion Syndrome Preferred
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