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Chromosome 12, 12p trisomy MeSH Supplementary Concept Data 2026


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 Introduced
2010/08/25
Last Updated
2016/09/29
Chromosome 12, 12p trisomy Preferred
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