Familial pericentric inversion of chromosome 11 in a child with sporadic unilateral retinoblastoma

The authors treated a 12-month-old Japanese boy with sporadic unilateral retinoblastoma and hereditary chromosomal inversion inv(ll)(pllq23). This chromosomal inversion was also present in the father of the boy. Cytogenetic analyses of the mother and sister were normal. Retinoblastoma is associated with constitutional deletion of the long arm of chromosome 13. The breakpoint in the chromosome 11q23 region is involved in several malignant hematological diseases, and may be important in malignant transformation. Therefore, a large number of such patients with pericentric inversion of chromosome 11 has to be identified before significance of this chromosomal abnormality can be determined.