Turner syndrome (1)
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Turner syndrome is a genetic condition that affects development in females caused by partial or complete absence of the second X chromosome. It was first discovered in 1938 and named after Dr. Henry Turner. Common symptoms include short stature, lack of sexual maturation, infertility, and cardiovascular issues. It is diagnosed through a karyotype blood test that shows a monosomy, or missing chromosome. While there is no cure, treatment can help manage certain medical conditions. It occurs in around 1 in 2,500 live female births.
Turner syndrome (1)
- 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, whats 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. Thats 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 persons chromosomes.
- 30. What will they find? If the patient has Turner Syndrome, a monosomy will be discovered in the karyotype.
- 31. Monosomies? According to Childrens 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
- 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?