Search
mosaic variegated aneuploidy syndrome
Genetics:
- autosomal recessive
- associated with defects in BUB1B (type 1) [1]
- associated with defects in CEP57 (type 2) [2]
- mosaic aneuploidies, predominantly trisomies & monosomies, involving multiple different chromosomes & tissues
- proportion of aneuploid cells varies but is usually > 25% & is substantially greater than in normal individuals
Clinical manifestations:
- severe recessive developmental disorder
- severe intrauterine growth retardation
- microcephaly
- eye anomalies, mild dysmorphism, variable developmental delay, & a broad spectrum of additional congenital abnormalities & medical conditions may also occur
- risk of malignancy is high
- rhabdomyosarcoma, Wilms tumor & leukemia reported in several cases
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
- OMIM :accession 257300
- OMIM :accession 614114