Novel Y chromosome breakpoint in an infertile male with a de novo translocation t(Y;16): a case report

Abstract

Cytogenetic anomalies are an important cause of male infertility. The rate of chromosomal rearrangement ranges from 10–15 % in azoospermic males [1, 2]. Y;autosome translocations can be found in both fertile and sterile males, depending on the Y chromosome breakpoint and/or the autosome involved [3, 4]. It is generally assumed that fertile males have a Y chromosome breakpoint at Yq12, the genetically inert heterochromatic block, whereas the Y chromosome breakpoint in sterile males is in the distal Yq11 euchromatic region that contains the azoospermia factor (AZF) locus [5]. To date, there have been only five cases reported of a balanced reciprocal (Y;16) translocation associated with male infertility. Here, we present molecular and cytogenetic characterization of a de novo Y;16 translocation with breakpoints at Yp11 and 16q11 in an adult azoospermic male.