Tag Archives: Karyotype

Turner syndrome

Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. TS occurs in approximately 1 of every 2,000 live female births and approximately 10% of all miscarriages.

At the basic level, the missing genetic material keeps the female body from maturing naturally.  Turner syndrome is variable and no female is exactly the same. There are a few available treatments for TS and our Society is currently working with researchers to develop additional treatment options and to find out more insights.

Turner syndrome occurs when all or part of one of the X chromosomes is lost before or soon after the time of conception.  It is not connected to or passed on from either parent and there is nothing a person can do to increase or decrease the chance of this happening.

A female can be diagnosed with TS before birth with an amniocentesis or anytime during their life with a specific blood test called a karyotype.  A karyotype shows the number and visual appearance of the chromosomes as found in the cells of a person.

Turner syndrome is usually diagnosed before or during teen years when one would expect to see the signs of puberty that TS may prevent.  Diagnosis can occur in any stage of life.

Signs and Symptoms (may include any number of the following):

  • short stature (usually under 5′ tall) is the most common feature of TS
  • narrow, high-arched palate
  • retrognathia (lower jaw not prominent)
  • ears protruding outward, and/or low set, and/ or rotated toward neck low hairline
  • webbed neck (excess or stretched skin) which may include a lowered hairline
  • droopy eyes
  • strabismus (lazy eye)
  • broad chest
  • cubitus valgus (arm turns slightly out at the elbow)
  • scoliosis (curvature of spine)
  • flat feet
  • small and narrow fingernails, toenails that turn up
  • short fourth metacarpal (bone in hand under knuckle)
  • edema (swelling or puffiness) or hands and feet, especially at birth​

Treatment (for Growth and Development)
Several medical problems occur more frequently in individuals with TS but these conditions are usually managed successfully with good, ongoing medical care.

Conditions that may be managed through medication or other therapies include short stature, lack of estrogen, hypertension, hearing loss, lazy eye, obesity, diabetes, urinary tract abnormalities, thyroid dysfunction, and orthopedic problems.  Other treatments may include lymphedma therapy, occupational therapy, speech therapy (children), social skills training, and dietary adjustments for some symptoms of TS, this is not an exhaustive list of treatments.

Other Considerations
TS individuals are of normal intelligence with the same variance as the general population.   However, some have difficulty with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention.   This causes problems with sense of direction, manual dexterity, nonverbal learning and social skills.