Distal Duplication 20q Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A syndrome characterized by the partial trisomy of the long arm of chromosome 20, leading to a variety of abnormalities that include neurodevelopmental delay, cardiac malformations, and facial dysmorphism.

**Synonyms:** - 20q Partial Trisomy Syndrome - 20q partial trisomy syndrome - Distal Trisomy 20q