The following conditions are caused by changes in the structure or number of copies of the X chromosome.

Klinefelter syndrome is caused by the presence of one or more extra copies of the X chromosome in a male's cells. Extra genetic material from the X chromosome interferes with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone (a hormone that directs male sexual development).

Typically, males with Klinefelter syndrome have one extra copy of the X chromosome in each cell, for a total of two X chromosomes and one Y chromosome (47,XXY). Less commonly, affected males may have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra copies of both the X and Y chromosomes (48,XXYY). In males with more than one additional X chromosome, the extra genetic material may lead to mental retardation and other medical problems.

Some males with Klinefelter syndrome have the extra X chromosome in only some of their cells; in these individuals, the condition is described as mosaic Klinefelter syndrome (46,XY/47,XXY).

 

Triple X syndrome

Triple X syndrome (also called 47,XXX or trisomy X) results from an extra copy of the X chromosome in each of a female's cells. Females with trisomy X have three X chromosomes, for a total of 47 chromosomes per cell. It remains uncertain why an extra copy of the X chromosome is associated with tall stature and learning problems in some girls and women.

Females with more than one extra copy of the X chromosome (48,XXXX or 49,XXXXX) have been identified, but these conditions are rare. The extra genetic material may lead to mental retardation and other medical problems.

Turner syndrome

Turner syndrome results when each of a female's cells has 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, including short stature, learning problems, and inability to conceive a child (infertility).

About half of individuals with Turner syndrome have monosomy X (45,X), which means each cell in an 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 people with Turner syndrome have a chromosomal change in only some of their cells. Some cells have the usual two sex chromosomes (either two X chromosomes or one X chromosome and one Y chromosome), and other cells have only one copy of the X chromosome. These cases are called Turner syndrome mosaics (45,X/46,XX or 45,X/46,XY).

Researchers have not determined which genes on the X chromosome are responsible for most of the features of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. The SHOX gene is located in the pseudoautosomal region of the X chromosome. Missing one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

 

Other chromosomal conditions

Chromosomal conditions involving the sex chromosomes often affect sex determination (whether a person has the sexual characteristics of a male or a female), sexual development, and the ability to have children (fertility). The signs and symptoms of these conditions vary widely and range from mild to severe. They can be caused by missing or extra copies of the sex chromosomes or by structural changes in the chromosomes.