Human Male Meiosis and Sperm Aneuploidies

Reports indicate that infertile males, especially those with low sperm count, have an increase in chromosomally-abnormal spermatozoa, therefore the study of these individuals is critical for the field of assisted reproduction. Importantly, aneuploid sperm remain able to fertilize eggs, often resulting in repetitive intracytoplasmic sperm injection (ICSI) failure, recurrent miscarriage, and offspring with increased genetic risk. Most numerical chromosomal abnormalities, especially monosomies, are inviable and result in spontaneous abortion. However, a subset of chromosomal abnormalities can result in live birth, including trisomies 13, 18, and 21 and sex chromosome aneuploidies. Offspring with these aneuploidies typically display physical disabilities, mental retardation, infertility, etc. (reviewed by Martin, 2008). Thus, effective diagnostic methods to detect sperm aneuploidy are of great interest.