Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.
A girl with sporadic unilateral retinoblastoma and mental retardation has an interstitial deletion in the long arm of chromosome 13. Her mother has a paracentric inversion of one chromosome 13; the deleted chromosome 13 in the daughter is derived from the mother's normal chromosome 13.
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D008954:Models, Biological; D012175:Retinoblastoma / Q000235:genetics*