Abstract
Mosaic loss of Y chromosome (LOY) is assumed to be among the most common acquired genetic variations in elderly people. Recent studies have linked aging‐related mosaic LOY to the risk of Alzheimer's disease, cancer, and early death. Here, we propose that mosaic LOY can present in men at any age. Mosaic LOY appears to be associated with disorders of sex development and Turner syndrome at birth, short stature from childhood, and spermatogenic failure at reproductive age, in addition to shortened survival after 60 years of age.
Highlights
If the Y chromosome is lost in an early‐stage embryo, the embryo should have a mosaic 45,X/46,XY karyotype. This karyotype has been reported in several neonates with mixed gonadal dysgenesis, a type of disorders of sex development (DSD) characterized by incomplete masculinization of external genitalia
Patients with Turner syndrome and a 45,X karyotype are more prone to retain maternally derived X chromosomes than to conserve paternally derived ones.9. These findings suggest that a considerable proportion of Turner syndrome cases is ascribable to loss of Y chromosome (LOY) during early development and subsequent clonal expansion of the 45,X cell lineage
Considering that the Y chromosome harbors a large number of spermatogenic genes,1 mosaic LOY in the gonads of children and young adults may be associated with defective spermatogenesis
Summary
KEYWORDS infertility, karyotype, somatic mosaicism, Turner syndrome, Y chromosome This karyotype has been reported in several neonates with mixed gonadal dysgenesis, a type of disorders of sex development (DSD) characterized by incomplete masculinization of external genitalia.7,8 These data suggest that mosaic LOY during embryogenesis constitutes one of the genetic causes
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