title: Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas.
abstract: This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat], and in his sister the relatively modest effects of triplication of the mid-portions of 13q are demonstrated [46,XX,ins(12;13) (12pter leads to 12p11.2: :13q22.1 leads to 13q12.5: :12p11.2 leads to 12qter)mat]. Qualitative and quantitative gene marker studies and chromosomal staining techniques to differentiate timing of DNA replication failed to indicate functional gene changes about the breakpoints.
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D004261:DNA Replication; D005134:Eye Neoplasms / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D012175:Retinoblastoma / Q000201:enzymology / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy