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1. Turner Syndrome Click here to add text • Lily Ou Click here to add text. Click here to add text. Click here to add text. Click here to add text. Click here to add text. Click here to add text.

2. What is it? • Absence or incompletion of the X chromosome • Chromosomal abnormality • The affected genes are the ones involved in growth and sexual development • Occurs in every 2500-3000 females • Affects female only • Not an inherited disease

3. Causes • Nondisjunction • Chromosomes fail to separate properly during meiosis and results in an imbalance of chromosomes • Turner syndrome is monosomy condition; it is the only full monosomy that isn’t completely lethal • Absence of SHOX gene which is responsible for bone development and growth • Causing short structure and skeletal abnormalities

4. Causes • X chromosome defects • deletion • fragmented • structural problems  ring formations that prevent gene expression (20%)

6. types • Classical turner syndrome (50-60%) • Absence of X chromosome in all cells • Nondisjunction during meiosis • Mosaic turner syndrome (30%) • Absence of X chromosomes in some cells • Random event during cell division in early fetal development

7. Diagnosis • Amniocentesis • Chorionic villus sampling （CVS) • Abnormal ultrasound findings • Karyotype analysis after birth

9. Symptoms • Broad, shield shaped chest • Feet and hand swelling • Hyper activity • Smaller hips • Poor breast development • Overweight • Small and soft fingernails • Dry eyes and vagina • No sexual changes in puberty • Short body • Webbed neck • Low-set ears • Gonadal dysfunction • Infertility • No menstruation due to the lack of development of ovaries • Inactive thyroid gland • A lot of moles

10. Complications • Heart and Kidney Problems (horse shape) • Heart murmur or narrow aorta • Middle ear infections • High blood pressure • Osteoporosis • Scoliosis • Gastrointestinal bleeding • Learning disabilities 

13. Treatments • Pediatric endocrinologist • Growth hormone injections • Estrogen replacement therapy • Reproductive technology • Surgery • Regular screening

14. http://genetics.emedtv.com/turner-syndrome/treatments-for-turner-syndrome.htmlhttp://genetics.emedtv.com/turner-syndrome/treatments-for-turner-syndrome.html • http://www.medicinenet.com/turner_syndrome/article.htm • http://www.genome.gov/19519119#al-3 • http://www.mayoclinic.com/health/turner-syndrome/DS01017/DSECTION=symptoms • http://www.nhs.uk/Conditions/Turners-syndrome/Pages/Symptoms.aspx