[A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)].
A partial monosomy 13 by interstitial deletion was found in the complement of a girl with mild mental retardation and bilateral retinoblastoma. Break points were at 13q12 and 13q14. After comparison with other known observations of retinoblastoma with deletion of chromosome 13, it is suggested that the deletion common to these patients may be band 13q14. The most likely pathogenic hypothesis seems to be the haplo-insufficiency.
D002675:Child, Preschool; D002872:Chromosome Deletion; D002877:Chromosomes, Human / Q000648:ultrastructure; D002901:Chromosomes, Human, 13-15; D003878:Dermatoglyphics; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D012175:Retinoblastoma / Q000235:genetics*
Un cas de rétinoblastome bilatéral avec monosomie 13 partielle (q12 leads to q14).