Chromosomal Translocation in a Mentally Deficient Child with Cryptorchidism

Abstract

SUMMARY The cytological observations of a 6‐year‐old boy with mental and physical retardation, obesity and cryptorchidism are reported. Chromosome studies revealed a chromosome number of 45 and a consistent karyotype pattern with only four large acrocentric chromosomes of group 13–15 and an additional metacentric chromosome, interpreted as the result of a translocation of the two missing chromosomes of group 13–15. As far as our knowledge goes, this is the second case of a mere translocation of two autosomes associated with a severe developmental anomaly.