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Chromosome 5, trisomy 5q MeSH Supplementary Concept Data 2024


MeSH Supplementary
Chromosome 5, trisomy 5q
Unique ID
C537650
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537650
Entry Term(s)
Duplication 5q
Trisomy 5q
Registry Number
0
Heading Mapped to
Chromosomes, Human, Pair 5
*Cri-du-Chat Syndrome
*Trisomy
Frequency
18
Note
A chromosomal abnormality characterized by an extra copy or duplication of the long (Q) arm of chromosome 5. Severity of symptoms depend on the size and location of the duplication and which genes are involved. Affected individuals may experience developmental delay, intellectual disability, behavioral problems, and have distinct facial features (FACIES).
Date of Entry
2010/08/25
Revision Date
2016/09/29
Chromosome 5, trisomy 5q Preferred
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