MeSH Browser

MeSH Supplementary: Chromosome 1p36 Deletion Syndrome
Unique ID: C535362
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535362
Entry Term(s): 1p36 deletion syndrome; 1p36.33 deletion; Chromosome 1, 1p36 deletion syndrome; Deletion 1p36.33; Monosomy 1p36 syndrome
Heading Mapped to: *Chromosome Deletion; Chromosomes, Human, Pair 1; *Chromosome Disorders
Frequency: 58
Note: A disorder that results from deletion of chromosome 1p36 region. It is characterized by multiple congenital craniofacial and skeletal abnormalities, HEART SEPTAL DEFECTS; HYPOTHYROIDISM; seizures, and severe neuordevelopmental and intellectual disability. It is the most common terminal deletion syndrome, occurring in 1 in 5,000 births. OMIM: 607872
Date of Entry: 2010/08/25
Revision Date: 2016/08/01

Chromosome 1p36 Deletion Syndrome MeSH Supplementary Concept Data 2024