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Mosaic variegated aneuploidy syndrome MeSH Supplementary Concept Data 2025


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
Registry Numbers
0
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 Preferred
Chromosomal mosaicism due to mitotic instability Related
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