A rare combination of mosaic ring y chromosome and shox gene deletion in an infertile male

Abstract

Structural rearrangements of the Y chromosome are frequently associated with testicular dysfunction. These anomalies may be long or short arm deletions of Y chromosome, isochromosome Y, isodicentric Y chromosome, and ring Y chromosome. Patients with ring Y chromosome can present with many different phenotypes, such as Turner’s Syndrome, ambiguous genitalia, short stature and infertility. The SHOX (short stature homeobox-containing) gene is located in the pseudoautosomal 1 (PAR 1) region of the X and Y chromosomes and loss of function of one copy is associated with short stature. In this study, we present a rare combination of SHOX gene deletion in addition to the ring structure of Y chromosome in a patient who was referred to our clinic with infertility and having 46,X,r (Y)/45,X mosaicism as a result of conventional cytogenetic analysis.