Atypical chromosome patterns - Turners Flashcards
Who does Turner’s affect?
Females
Who is the condition more common with?
Girls born to older women
How many females does it affect?
1 in 2200
What are the chromosomes like in someone with TS?
They have one full X chromosome but the other is missing or incomplete
What is mosaic turners syndrome?
One copy of the X is missing or incomplete but only in some of the cells, not all of them
When does the condition occur?
During conception
How many miscarriages that occur in the first trimester are caused by TS?
1 in 10
What are some physical effects of TS?
- Swelling in the neck, feet and hands
- Short stature
- Down-slanting eyes
- Short, webbed neck
- Broad chest
- Lots of moles
- Organ abnormalities, commonly of the heart and kidneys
What is the main deficiency of TS?
Non-Functioning ovaries which causes the breasts to not develop properly during puberty, not having periods and being infertile.
How many with the condition can get pregnant naturally?
1 in 200
What medical complications can arise from TS?
Heart conditions, high blood pressure, urinary complaints, vision and hearing problems and osteoporosis
What are some psychological problems with TS?
issues with social adjustment and a few have minor learning difficulties
What is treatment for TS?
Giving growth hormones as well as oestrogen and progesterone supplements to help them live a normal life even though they have a slightly reduced life span
What did Price et al find?
Longitudinal study for 17 years on 156 females with TS who survived infancy, finding that 15 had died compared to an expected 3.5 deaths in a matched non-TS female group
Causes of death were mainly heart and circulatory problems
What did Brown et al find?
Looked at MRI scans of 26 girls with TS and 26 gender and age matched non TS girls to find that girls with TS had smaller posterior cerebral and cerebellar brain areas, suggesting that TS affects the growth of certain parts of the brain which could explain the developmental effects
