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Chromosome 9p Deletion Syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Chromosome 9p Deletion Syndrome
Unique ID
C538024
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C538024
Entry Term(s)
Chromosome 9, monosomy 9p
Deletion 9p
Deletion 9p Syndrome
Monosomy 9p
Monosomy 9p Syndrome
Registry Number
0
Heading Mapped to
*Chromosome Deletion
Chromosomes, Human, Pair 9
Frequency
25
Note
An autosomal dominant abnormality (partial deletion) of chromosome 9 that is characterized by TRIGONOCEPHALY, flattened occiput, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, HYPERTELORISM; MUSCLE HYPERTONIA and INTELLECTUAL DISABILITY. PATENT DUCTUS ARTERIOSUS; VENTRICULAR SEPTAL DEFECTS and HERNIAS may also be present. OMIM: 158170
Date of Entry
2010/08/25
Revision Date
2019/06/20
Chromosome 9p Deletion Syndrome Preferred
Deletion 9p Related
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