Turner Syndrome
Door Jessica Phelps
1. Sterile
1.1. Have gonadal streaks instead of ovaries
2. Physical characteristics
2.1. short stature
2.2. webbing of neck
2.3. widely spaced nipples
2.4. spare body hair
2.5. edema in feet of newborns
3. Coarction of aorta
4. IQ normal range
4.1. deficiency in spatial and math reasoning
5. Occur 1 in 2500 females
6. 15-20% of spontaneous abortions are 45,X
6.1. Condition very lethal during gestation
6.2. One of most common single chromosome mutation
6.3. Less than 1% 45,X survive to term
7. Teenagers treated with estrogen
7.1. Aides in development secondary sex characteristics
7.2. Dose continued at a reduced level throughout life to avoid osteoporosis
8. Sometimes treated with Human growth hormone to increase height
9. Diagnosed by Karyotyping
9.1. Done by taking blood sample after birth
9.2. Can be diagnosed during pregnancy
9.2.1. Amniocentesis
9.2.2. Chorionic villus sampling
9.2.3. Certain characteristics in ultrasound may raise suspicion for Turner's syndrome and prompt further testing
10. No risk factors, occurs randomly
11. Sex chromosome aneuploidy
11.1. presence of a single X chromosome
11.1.1. karotype: 45,X
11.1.2. absence of homologous X or Y chromosome
11.1.3. Total of 45 chromosomes
11.2. 3/4 inherit X chromosome from mother
11.2.1. Most cases caused by loss of father's X chromosome