What's turner syndrome?

45 X/0 Pattern. At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss.The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood.

Related Questions

What is turner syndrome?

Turners Syndrome. Turner syndrome is caused in females when there is absence of one xchromosime, the girls are born with one x chromosome and the features are.Short stature, broad chest, low hairline, low set ears and webbed neck.There is non functioning ovaries and they do not get menstruation.They are more prone to congenital heartdisease, hypothyriodism, diabetes and few other conditions. Read more...

What causes turner syndrome?

Turner. Its a genetic disorder caused by a chromosome abnormality. One x chromosome is missing in some or all cells. It manifests in the classic case as a female with short stature, webbed neck, wide spaced nipples, shield-shaped chest, short fingers, cardiac and kidney problems, GI issues, endocrine problems with growth, thyroid, diabetes, autoimmune disorders. Read more...
Lack of chromosome. Normal humans have 22 pairs of regular chromosomes (chms) and one pair of sex chms .At conception you are supposed to get one of each pair from each parent. If one of the sex (X) chms is lost from the egg, the fetus (which can survive the mistake) will be born with 22 pr of regular chms and only one X.The defect occurs in the formation of the egg. The effect on the kid varies. Read more...

What is may-turner syndrome?

Compressed iliac vei. May- thurner syndrome classically refer to a compression of the left common iliac vein by the iliac artery . This result in left leg pain, swelling and deep vein thrombosis. It has now been expanded and is now called non thrombotic iliac vein lesions (nivl), to include both the right and left iliac veins.). Read more...

How do you treat turner syndrome?

Turner syndrome. Turner syndrome is a genetic disorder occurring in females resulting in the absence of the second sex chromosome. The physical results of this in girls and women are variable. All females with this disorder should receive appropriate medical screening for heart disease, kidney disease, thyroid disease, reproductive health issues, and should be seen by physicians who can counsel appropriately. Read more...
Detection/support. At diagnosis, there are tests that need to be done to look for hidden problems in the heart and blood vessels. Most then need normal care in early childhood until they get close to expected puberty. Referral to a pediatric endocrinologist (hormone doc) will assist their short height and transition into female development. Counseling with a geneticist when she becomes older can help her understand. Read more...

What is Parsonage-Turner syndrome?

I looked it up. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness[Those who suffer from Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied.. This is from Wikipedia - I had never heard of it. Read more...

Long term outcome for turner syndrome?

Good in general. With appropriate health care and health screening most women with turner syndrome can lead relatively healthy lives. Much of this depends upon the severity of the associated problems, such as heart disease. Read more...

Can you explain mosaic turner syndrome?

A little complex. Classic turner syndrome is a female who is missing 1 of the 2 x chromosomes, designated as 46x. A normal female has 2 x chromosomes (46xx). Most turner mosaics have a mix of normal cells and turner cells resulting in a milder form of turner syndrome. There are several variations however-- some with 1 normal and one abnormal x chromosomes and evan a male form with a normal x and an abnormal y. Read more...
Timing of error. At conception , the embryo begin duplicating the chromosomes (chms) donated by egg & sperm to form the 23 chromosome pairs. If one x chm didn't make it , you will only have a turner pattern (45 chms xo) . If a normal xx pattern starts but an x is lost after several divisions the mosaic is created by having one normal 46xx & another 45xo cell lines replicating throughput the body. Read more...

What are the effects of turner syndrome?

Turner Syndrome. is characterized by short stature, delayed or no puberty due to loss of ovarian function. Most women are infertile. One third are born with a heart defect and some also have skeletal malformations. Read more...

What are the symptoms of turner syndrome?

Turner syndrome. Symptoms and features of turner syndrome: thick neck, wide chest with distant nipples, osteoporosis, short stature, higher risk of diabetes, osteoporosis, heart murmur secondary to heart disease, arms turning outwards at the elbows, not having periods during pubertal age, learning disability. Read more...