Synaptonemal complex karyotyping in an oligospermic patient with heterochromatin duplication in chromosome n. 9.

ABSTRACT

Synaptonemal complex karyotyping has been performed in an oligospermia of unknown etiology in a patient carrying a 9qh+ chromosomal polymorphism. The testicular histology showed hypospermatogenesis at the spermatid level and an abnormal pattern of chromatin condensation. Spermatocytes at early pachytene showed a large, asymmetric loop in SC #9, which disappeared at late pachytene, probably because of synaptic adjustment. The loop was formed by a lateral element 7.02% longer than the average normal one. The loop exceeded the centromere towards the short arm, and it is interpreted as a tandem duplication of about 50% of the paracentromeric heterochromatin. The present observation and the previously reported asynaptic loops in carriers of pericentric inversions and showing severe oligospermia suggest that chromosomal variants producing asynaptic loops may be associated with germ cell loss. Further meiotic studies in infertile carriers of such variants are indicated.