A case of 46,XY,t(1;13) (q24;q32) with mental retardation.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic