23. A Guide to Turner
Syndrome
By: Philip Baltzer

24. A Brief Background…
 In 1938, Dr. Henry Turner discovered a
pattern of women with decreased height
and a lack of breast development,
menstruation, and sexual hair growth
 Later, discoveries were made that showed
that these women were missing all or part
of a chromosome
 This syndrome was labeled, “Turner
Syndrome” (named after Dr. Turner)

25. So, what’s a “syndrome”?
According to Marsha Davenport, MD, a
syndrome is a “…set of features or
symptoms that often occur together and are
believed to stem from the same cause.”

26. What are the symptoms?

27. How is it Diagnosed?
 Turner Syndrome may be hard to
diagnose and often goes undetected
until puberty
 A diagnosis is usually made when
physical symptoms of TS appear
 Sometimes TS is suspected in an
ultrasound test

28. That’s All?
To confirm a diagnosis,
specialists take a karyotype
of the patient.

29. And, what exactly is a
“karyotype”?
A karyotype is a blood test used to organize a profile of a person’s
chromosomes.

30. What will they find?
If the patient has
Turner
Syndrome, a
monosomy will
be discovered in
the karyotype.

31. Monosomies?
 According to Children’s Hospital of
Pittsburg, a monosomy is a “…term used
to describe the absence of one member of
a pair of chromosomes.”
 So, if a baby is born missing a X
chromosome, she is said to have,
“monosomy X”

32. Here's How It
Works:

33. Is this a Common Disease?
 TS affects 1/ 2,500 live female births.
 There are over 71,000 women and girls living with TS
across the United States.
 It is estimated that only about 1% of fetuses with only
one X chromosome survive to term
 Approximately 10% of all miscarriages are due to Turner
syndrome

34. How long do people with TS live?
 Like stated before, only around 1% of fetuses
lacking an X chromosome live
 However, once a baby is born with TS, the
syndrome does not effect the life expectancy of the
person

35. Is there a cure?
• There is currently no cure for Turner Syndrome
• There are some treatments for the symptoms

36. Interesting Facts:
 A female fetus (normally XX) can survive with only one X
chromosome, but a male fetus (normally XY) could not
survive with only one Y chromosome. This is because not
having an X chromosome is much worse than not having a
Y chromosome. The Y chromosome carries very few genes
essential for life. In contrast, the X chromosome is a much
longer DNA molecule and contains many, many genes that
are needed for cells to function.
 In 75-80% of cases, the single X chromosome comes from
the mother's egg; the father's sperm that fertilizes the egg
is missing its sex chromosome.
 Girls with Turner syndrome are almost invariably born to
women who themselves have a normal chromosome
pattern.

37.  PubMed Health-
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0
001417/
References:
 Turner Syndrome Society of the US-
http://turnersyndrome.org/learn-about-ts/fact-
sheet
 The University of Utah-
http://learn.genetics.utah.edu/content/disorders/w
hataregd/turner/
 Mayo Clinic-
http://www.mayoclinic.com/health/turner-
syndrome/DS01017
 National Human Genome Research Institute-
http://www.genome.gov/19519119
 The Center for Genetics Education-
http://www.genome.gov/19519119

38. Any Questions?

39. Something to Remember…

40. Thanks For Watching!