A case of 46,XY,t(1;13) (q24;q32) with mental retardation

Hum Genet. 1977 Jun 30;37(2):239-42. doi: 10.1007/BF00393588.


A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be localized only by regions and the individual was not mentally retarded.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Chromosome Aberrations*
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 13-15*
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Translocation, Genetic*