Turner syndrome (aka 45,XO) is the presence of only a single X chromosome (there are usually 2 in women), and therefore can only occur in females.

• Webbed neck
• Short stature
• Swollen hands and feet
• Broad chest
• Dysfunctional ovaries may result in:
  • Amenorrhea
  • Don't develop breasts
  • Infertile
• Most have normal intelligence

Patient information

What happens when a lady has only 1 X chromosome, instead of the normal 2? Are they half the lady they should be ?
They can get ovaries that don't work, so they might not get their periods, breasts, or be unable to have kids. You see a characteristic webbed neck. They can be shorter than normal. Have broader chests.

• It is not usually inherited from a person’s parents
• No environmental risks are known and the mother’s age doesn’t play a role. It is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered
• While most people have 46 chromosomes, people with Turner syndrome usually have 45
• The chromosomal abnormality may be present in just some cells in which case it is known as Turner syndrome with mosaicism. In these cases, the Sx are usually fewer and possibly none occur at all

• Dx is based on physical signs and genetic testing

• Congenital heart disease
• Hypothyroidism
• Diabetes
• Vision and hearing problems
• Autoimmune diseases