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Chromosome 1, monosomy 1p MeSH Supplementary Concept Data 2023


MeSH Supplementary
Chromosome 1, monosomy 1p
Unique ID
C535591
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535591
Entry Term(s)
Deletion 1p
Monosomy 1p
Registry Number
0
Heading Mapped to
*Chromosome Deletion
Chromosomes, Human, Pair 1
Frequency
39
Note
Deletion of a portion of the p region of Crhomosome 1. Monosomy 1p36 (OMIM: 607872) is the most common terminal deltion syndrome in humans, occuring in 1 in 5000 births. It causes severe craniofacial abnormalities and developmental disabilities, including delayed growth, CRANIOSYNOSTOSES; MICROCEPHALY; CLEFT PALATE; eye and ear defects; congenital heart defects, seizures, and intellectual disability.
Date of Entry
2010/08/25
Revision Date
2016/09/29
Chromosome 1, monosomy 1p Preferred
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