Most people are born with two sex chromosomes. A boy inherits the X chromosome from his mother and the Y chromosome from his father. A girl inherits one X chromosome from each parent. If a girl has Turner syndrome, one copy of the X chromosome is missing or significantly changed.

The genetic alterations of Turner syndrome may be one of the following:

  • Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome.
  • Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome, or they have one complete and one altered copy.
  • Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material. These individuals develop biologically as girls, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Effect of the chromosomal errors

The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth — short stature, ovarian failure and learning disabilities. Physical characteristics and health complications that arise from the chromosomal error vary greatly.

Aug. 23, 2014