Chromosome 1p36 Deletion Syndrome [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C535362
Heading Mapped to:
Entry Terms:
- Chromosome 1, 1p36 deletion syndrome
- 1p36 deletion syndrome
- Monosomy 1p36 syndrome
- 1p36.33 deletion
- Deletion 1p36.33