Doctor insights on:
Mosaic Turner Syndrome
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 moreSee 1 more doctor answer
Partial: Turner syndrome occurs when a girl only has one x chromosome. Mosaic turner syndrome occurs when some of the cells in a girl have two x chromosomes and the rest have one x chromosome. Women with mosaic turner syndrome can have all of the same problems as women with turner syndrome, but the severity tends to be milder. Short stature, sterility, heart disease, and learning problems can all occur. ...Read moreSee 1 more doctor answer
Variation of Theme: Most females have 2 x chromosomes as part of their genetic make-up in all cells. In classic ts females are born with 1 x chromosome in most or all cells. Patients who are mosaic are those who may be missing just part of an x or they could have some cells with 2 x's and others with only 1 x. There are other variations. Mosaic ts patients are usually not as severely affected as classic ts patients. ...Read more
I have mosaic Turner syndrome and my karyotype is 45x. Since I don't have typical female chromosomes does this mean I am intersex?
Turner syndrome: Turners syndrome is one of the most common reasons for premature ovarian failure. Many turner syndrome patients will never menstrate because of rapid follicular depletion. Since you have a mosaic pattern , it is unpredictable when your ovaries will fail. You could potentially start menstruating and start ovulating for a few years before ovarian failure. ...Read moreSee 1 more doctor answer
My 14 yr old,just told me she's been menstrual bleeding 3 weeks non-stop(heavily).DX with Mosaic Turners Syndrome. Causes?
Estrogen: As a mosaic Turner syndrome we don't know if she has functional ovaries or not.Either way, early in the teen years women who have enough estrogen to support development & the buildup of womb tissue can have irregular cycles that are marked by heavy flow as "breakthrough" bleeding.When they don't release eggs, they don't create the hormone that paces the pattern.BC pills may help her establish 1 ...Read more
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. ...Read more
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
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 moreSee 1 more doctor answer
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
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