Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004).
Genetic Heterogeneity of Mosaic Variegated Aneuploidy Syndrome
See also MVA2 (614114), caused by mutation in the CEP57 gene (607951) on chromosome 11q21; MVA3 (617598), caused by mutation in the TRIP13 gene (604507) on chromosome 5p15; MVA4 (620153), caused by mutation in the CENATAC gene (620142) on chromosome 11q23; MVA5 (620184), caused by mutation in the SLF2 gene (610348) on chromosome 10q24; and MVA6 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21. [from
OMIM]