MeSH Browser

MeSH Supplementary: Mosaic variegated aneuploidy syndrome
Unique ID: C536987
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536987
Entry Term(s): Chromosomal mosaicism due to mitotic instability; Instability mitotic non disjunction syndrome; MVA Syndrome; Mosaic variegated aneuploidy syndrome 1
Heading Mapped to: Mosaicism; *Chromosome Disorders
Frequency: 65
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Mosaic variegated aneuploidy syndrome MeSH Supplementary Concept Data 2024