mosaic variegated aneuploidy syndrome

Genetics

• autosomal recessive
• associated with defects in BUB1B (type 1)
• associated with defects in CEP57 (type 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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/257300
• OMIM: https://mirror.omim.org/entry/614114