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Entity | Mosaic variegated aneuploidy syndrome (MVA) |
Note | MVA is a rare recessive condition characterised by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. 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. |
Prognosis | The prognosis for an individual with MVA syndrome is based on the malformations present in the individual. There is early mortality in a significant proportion of cases due to failure to thrive and/or complications of congenital abnormalities, epilepsy, infections or malignancy. |
Cytogenetics | MVA is characterised by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually >10% and is substantially greater than in normal individuals. Some patients with MVA also demonstrate premature chromatid separation in colchicine-treated blood lymphocyte and fibroblast cultures. |
Oncogenesis | The risk of malignancy in MVA is high with Wilms tumour, rhabdomyosarcoma, leukaemia and granulosa cell tumour of the ovary reported in several cases. Myelodysplastic syndrome has also been observed. |
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Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes. |
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Am J Med Genet A. 2008 Jul 1;146A(13):1687-95. (REVIEW) |
PMID 18548531 |
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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. |
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PMID 15475955 |
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Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects. |
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Am J Med Genet. 2002 Jul 1;110(3):273-7. |
PMID 12116237 |
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Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. |
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PMID 16411201 |
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Pivotal role of translokin/CEP57 in the unconventional secretion versus nuclear translocation of FGF2. |
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Traffic. 2009 Dec;10(12):1765-72. Epub 2009 Sep 14. |
PMID 19804566 |
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Cep57, a multidomain protein with unique microtubule and centrosomal localization domains. |
Momotani K, Khromov AS, Miyake T, Stukenberg PT, Somlyo AV. |
Biochem J. 2008 Jun 1;412(2):265-73. |
PMID 18294141 |
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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. |
Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. |
Nat Genet. 2011 Jun;43(6):527-9. Epub 2011 May 8. |
PMID 21552266 |
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