1 / 19

Turner Syndrome

Turner Syndrome. By: Chuan Tran. SBI3U. Definition. Chromosomal disorder affecting females one of the two x chromosomes is defective or completely absent. History. Named after a U.S. physician Henry H. Turner (born 1892) First identified as a disorder in 1928

ivi
Download Presentation

Turner Syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Turner Syndrome By: Chuan Tran SBI3U

  2. Definition • Chromosomal disorder affecting females • one of the two x chromosomes is defective or completely absent

  3. History • Named after a U.S. physician Henry H. Turner (born 1892) • First identified as a disorder in 1928 • First described features in 1930s

  4. Information • 1/2500 live female births • 99% spontaneously abort during first trimester of pregnancy • More common to miscarriage • Other names monosomy x, TS, Turner’s syndrome, Ullrich-Turner Syndrome, 45,X, Gonadal Dysgenesis • Rare to occur in more than one child in the same family

  5. Causes • Genetic disorder • Chromosome defect • Chromosomes in the nucleus of every cell that contain genetic information necessary to direct growth, normal function of systems and cells in the body • Normal human contains 46 chromosomes in each cell

  6. 2 of 46 that determine gender • In females XX • Males XY • TS patients are born with 45, with a missing X or structurally altered

  7. Forms of Turner Syndrome • Monosomy X • Mosaic

  8. Monosomy X • accident in the division of sex chromosomes (nondisjunction) • Patients have only one X chromosome in each body cell • 60% of patients have Monosomy X This girl has Monosomy x http://medgen.genetics.utah.edu/photographs/diseases/high/611.gif

  9. Mosaic • Absent X chromosomes only in some body cells • Accident during cell division • Some cells have XX and some have X • Both forms are not inherited

  10. Symptoms • Small stature • Infertility • Low posterior hairline • Low set ears • Broad chest • Webbing of the neck • Wide spread nipples

  11. Puffy Feet/Hands • Arms turned out at the elbows • Slight droop to eyes • Scoliosis • Slight breast development

  12. Some symptoms shown on this baby that has Turner Syndrome http://www.lucinafoundation.org/assets/turner-syndrome.jpg

  13. Effects • Delayed growth • Increased incidence of fractures, chance of diabetes and heart diseases/defects • Some learning disabilities (vary among individuals) • Cardiovascular malformations • Verbal IQ is higher than non-verbal IQ

  14. Juvenile arthritis • Rarely mature without hormone treatment • Fertility cannot be restored • Urinary tract malformations (kidney problems) • Normal menstrual periods do not occur

  15. Diagnosis • Prenatal diagnosis • Ultra sound • Kidneys and reproductive organs • Alpha-fetoprotein • Amniocentesis • MRI of the chest • Pelvic exam • No significant relation between mothers age and turner syndrome

  16. Genetic analysis of chromosomes • Chromosome count in white blood cells for abnormalities • Karyotype • Normal 46,XX or XY • TS – 45,X http://www.childrensdayton.org/images/turners.gif This karyotype has a total of 45 chromosomes and it is missing an X chromosome.

  17. Treatment • Female hormone therapy to promote development of secondary sexual characteristics and menstruation • Aortic dissection • Reproductive technology have also been used to help woman with TS become pregnant with a donar egg • Plastic surgery to current webbing of the neck

  18. Future Outlooks/Research • Capable of marriage • Raise a family through adoption • When carefully monitored they are able to have normal life expectancies • Normal intelligence • Full productive lives • No known way to prevent TS

  19. Bibliography • Griffith, Andrew. (2005). Turner Syndrome – The basics. Retrieved on May 14, 2009, from http://www.turnersyndrome.org/index.php?option=com_content&task=view&id=40&Itemid=57 • James Wynbrandt (1991). Genetic Disorders and Birth defects. New York: Facts on file, Inc. • ____. (may 2008). Turner Syndrome. Retrieved on May 13, 2009, from http://ghr.nlm.nih.gov/condition=turnersyndrome • Narins, Brigham. (2001). Turner Syndrome. The Gale Encyclopaedia of genetic disorders (vol. 2, pp 1297 – 1300). Farmington Hills: Thomson Gale. • Peirce, Benjamin A. (1950). The family Genetic Source book. Canada: John Wiley & Sons, Inc. • ____. (September 26, 2007). Turner Syndrome. Retreived on May 14, 2009, from http://www.nlm.nih.gov/medlineplus/ency/article/000379.htm

More Related