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Chromosome 21 monosomy MeSH Supplementary Concept Data 2026


MeSH Supplementary
Chromosome 21 monosomy
Unique ID
C537108
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537108
Entry Term(s)
Monosomy 21
Registry Numbers
0
Heading Mapped to
Chromosomes, Human, Pair 21
*Monosomy
Frequency
29
Note
The loss (ANEUPLOIDY) of portions of of chromosome 21 result in an increased probability of congenital abnormalities, developmental delay, and intellectual disability. The severity depends on the location and size of the deleted region: proximal and distal deletions are more moderate, whereas deletion of the 21q22 region can cause craniofacial abnormalities, HEART SEPTAL DEFECTS, and severe intellectual disability.
Date Introduced
2010/08/25
Last Updated
2016/09/29
Chromosome 21 monosomy Preferred
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