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Turner Syndrome
Turner Syndrome
Turner Syndrome is a chromosomal condition that affects development in females. TS occurs when one of the two X chromosomes is missing or incomplete.
Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered.
http://learn.genetics.utah.edu/content/disorders/whataregd/turner
Females (Baby-Adults)
Lucy at 30
Lucy at 8
At birth or around the time they might be expected to go through puberty Karyotype- blood test performed on cells in the amniotic fluid before birth and on cells in the blood after birth
Heart defects Hypertension Hearing loss Mild malformation of outer ear and low set ears Speech problems Dental abnormalities Obesity Lymphedema (webbed neck, edema) Nonverbal, visual-spatial processing learning disabilities Gonadal dysgenesis- sexual development
Normal intelligence Developmental delays Nonverbal learning disabilities Some behavioral problems Write well Memorizing information Language skills
Marissa, 12, was diagnosed with Turner Syndrome at birth . She has had multiple health issues but doesnt let her health conditions define her life.
There is no cure, BUT.. Scientists have developed a number of treatments Growth Therapy Estrogen Replacement- inducing puberty development, started when a girl is about 12 or 13 In Vitro Fertilization- helps TS women to get pregnant
1 in 2,500 newborn girls worldwide More common among pregnancies that do not survive to termmiscarriages and stillbirths Affects 60,000 females in the United States
TS
still develop normal, just slower Learn almost the same as other kids
American Physician 1938- first described the collection of his findings 1959- cause of Turner syndrome (having only a single X chromosome) was identified
This women is 45 years of age, she was diagnosed with TS when she was 4. In the 1980s researchers were unable to find a hormone to help growth.
Also known as Gonadal Dygenesis 800 new cases diagnosed each year The average height of an untreated woman is 4 feet 8 inches. 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. The Y chromosome carries very few genes essential for life
http://ghr.nlm.nih.gov/condition/turner-syndrome Dec . 3, 2013 http://kidshealth.org/teen/diseases_conditions/genetic/turner.html 2013 http://learn.genetics.utah.edu/content/disorders/whataregd/turner 2013 http://www.mayoclinic.com/health/turner-syndrome/DS01017 2013 http://www.genome.gov/19519119 Sep 24, 2013 http://www.turnersyndromefoundation.org/research.htm 2013 http://www.marfan.org/ 2012 http://www.med.umich.edu/yourchild/topics/turners.htm 2013 http://umm.edu/Health/Medical/Ency/Articles/Turner-syndrome 2011 http://www.nytimes.com/health/guides/disease/turner-syndrome 2013 http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/turner.h tml 2013