MeSH Browser

MeSH Supplementary: Chromosome 12, 12p trisomy
Unique ID: C538299
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538299
Entry Term(s): Duplication 12p; Trisomy 12p
Registry Numbers: 0
Heading Mapped to: Chromosomes, Human, Pair 12; *Trisomy
Frequency: 34
Note: An extremely rare duplication of the p region (short arm) of chromosome 12, occurring in about 1 in 50,000 births. Affected individuals have severe craniofacial malformations, postnatal growth and psychomotor developmental delay, intellectual disability, seizures, HYPTONIA, and abnormally short, wide hands.
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Chromosome 12, 12p trisomy MeSH Supplementary Concept Data 2025