Mosaic variegated aneuploidy syndrome [Supplementary Concept]
A hereditary autosomal recessive disorder characterized by mosaicism, with ANEUPLOIDIES, particularly TRISOMIES and MONOSOMIES of different CHROMOSOMES occuring in the cells of various tissues; aneuploid cells usually constitute more than 25%. Affected individuals typically have severe intrauterine growth retardation and MICROCEPHALY. Various other CONGENITAL ABNORMALITIES and DEVELOPMENTAL DISABILITIES may also be present, as well as an increased risk for developing CANCER. Germline mutations in the BUB1B gene have been identified. OMIM: 257300
Date introduced: August 25, 2010
MeSH Unique ID: C536987
Heading Mapped to:
Entry Terms:
- Instability mitotic non disjunction syndrome
- MVA Syndrome
- Mosaic variegated aneuploidy syndrome 1
- Chromosomal mosaicism due to mitotic instability