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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:

  • Monosomy 1p36 syndrome
  • Chromosome 1, 1p36 deletion syndrome
  • 1p36 deletion syndrome
  • 1p36.33 deletion
  • Deletion 1p36.33

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