Extra G Positive Band on Long Arm of Chromosome 9 and Long Y-Chromosome in a Patient Presenting with Infertility: A Case Report

Abstract

This is a case report of a male patient with rare 9qh+ variant containing extra G positive band along with an increase in heterochromatin in the long arm of Y-chromosome, presenting with primary infertility. There have been various reports on the involvement of 9h+ variation in infertility. In this case, the association maybe coincidental and not causal as the proband’s mother was also presented with similar 9qh+ variation and hence, is not infertile. Besides Yqh+ has been reported to be involved in male factor infertility or subfertility. There have been reports suggesting that epigenetic modifications accompanying cases of inherited heterochromatin polymorphisms may lead to phenotypic effects with clinical significance such as infertility that may not be seen in the parents.

Keywords

• chromosomal aberration
• constitutive heterochromatin
• male infertility