What are the genetic changes related to Turner syndrome?
Turner syndrome is a chromosomal condition related to the X chromosome. The SHOX gene is associated with Turner syndrome. People typically have two sex chromosomes in each cell; females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when a female’s cells have one normal X chromosome and the other sex chromosome is missing or altered. The missing genetic material affects development and causes the characteristic features of the condition. About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual’s body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely missing. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as X-chromosome mosaicism. Researchers have not yet determined which genes on th
