Mosaic Variegated Aneuploidy Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A group of autosomal recessive inherited tumor syndromes caused by mutations in the BUB1B, CEP57, or TRIP13 genes. It is characterized by disruption of proper mitotic chromosome segregation that results in chromosomal gains and losses. Clinical manifestations include growth retardation and an increased risk of developing malignant neoplasms.

**Synonyms:** - MVA - Mosaic Variegated Aneuploidy