Turner syndrome (1)

A Guide to Turner SyndromeBy: Philip Baltzer

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)

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.”

What are the symptoms?

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

That’s All?

To confirm a diagnosis, specialists take a karyotype

of the patient.

And, what exactly is a “karyotype”?

A karyotype is a blood test used to organize a profile of a person’s chromosomes.

What will they find?

If the patient has Turner

Syndrome, a monosomy will

be discovered in the karyotype.

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”

Here's How It Works:

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

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

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

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.

References:

MedicinePlus-http://www.nlm.nih.gov/medlineplus/turnersyndrome.html

American Family Physician-http://www.aafp.org/afp/2007/0801/p405.html

PubMed Health-http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/

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/whataregd/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

Any Questions?

Something to Remember…

Thanks For Watching!