A rare association of embryonal genitourinary tumor(s) with cerebral malformations has been reported in eight infants with variegated mosaic aneuploidy (VMA) and premature centromere division.

Synopsis

 constitutional aneuploidies
 premature centromere division
 tumor predisposition

• cystic partially differentiated nephroblastoma (#14608201#)
• embryonal rhabdomyosarcoma (#14608201#)

 cerebral malformations

• microcephalus
• Dandy-Walker malformation
• cataracts (#14608201#)

Etiology

 germline BUB1B mutations

References

 Hanks S, Coleman K, Summersgill B, Messahel B, Williamson D, Pritchard-Jones K, Strefford J, Swansbury J, Plaja A, Shipley J, Rahman N. Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome. Cancer Lett. 2005 Sep 21; PMID: #16182441#

 Furukawa T, Azakami S, Kurosawa H, Ono Y, Ueda Y, Konno Y. Cystic partially differentiated nephroblastoma, embryonal rhabdomyosarcoma, and multiple congenital anomalies associated with variegated mosaic aneuploidy and premature centromere division: a case report. J Pediatr Hematol Oncol. 2003 Nov;25(11):896-9. PMID: #14608201#