Turner Syndrome (TS) is a disorder
that may be difficult to diagnose clinically. This syndrome is caused by
the complete or partial absence of one of the two X chromosomes normally
found in females. The diagnosis is made by doing a specialized chromosome
test. Without proof that the person has a abnormal X chromosome,
another condition may be present (Noonan sydrome). Another reason
for chromosome studies in ALL patients suspected of TS is to search
for a Y chromosome. If present, further important preventative steps
may be indicated. Early and long term coordinated and multidisciplinary
care is very important for TS patients. Specialized teams composed
of an endrocrinologist, medical geneticist, pediatrician, educators and
others is highly recommended.
More...
Some Key Features ...
Short stature
Webbed neck
Flat or shield-like chest
Widely spaced nipples
Immature ovaries
Our team suggests ...
Consulting a clinical geneticist
Specialized long term follow up is essential for anticipatory and preventive
health care
Birth Defects Genetics Center - Mobile, Alabama 36688-0002 / 251-460-7500 For questions or comments contact
us or call toll free 1-800-624-1865
Date last changed: April 16, 2003 2:41 PM
http://www.southalabama.edu/genetics
