Chromosome 18 deletion syndrome [Supplementary Concept]

Deletion of chromosome 18q results in highly variable phenotypes including INTELLECTUAL DISABILITY; HYPOTONIA; HEARING LOSS, short stature, and foot deformities. Tapered digits and wide mouth may also occur. Inheritance of this deletion is autosomal dominant. OMIM: 601808

Date introduced: August 25, 2010

MeSH Unique ID: C536580

Heading Mapped to:

• Chromosome Deletion
• Chromosomes, Human, Pair 18
• Chromosome Disorders

Entry Terms:

• Chromosome 18q Deletion Syndrome
• Chromosome 18q- Syndrome
• 18q- Syndrome
• Chromosome 18, monosomy 18Q
• Monosomy 18q syndrome
• Monosomy 18q, deletion 18q
• Chromosome 18q syndrome
• 18q syndrome