Turner Syndrome Support Group
Turner syndrome encompasses a number of chromosomal abnormalities, of which monosomy X, is the most common. It occurs in 1 out of every 2,500 female births. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. In Turner syndrome, female sexual characteristics are present but underdeveloped.
I am 32 and was diagnosed with TS at 9. Reading the posts on the site they talk about degrees. I didn't know it could be in degrees. What does this mean? What is Mosaic TS? I was in on the GH testing program so I was diagnosed pretty early in the process of DR's getting to know TS. Maybe at 9 they didn't want to overwhelm me or my parents either. Talk to me.
One is the phenotype of the person effected by the mutation.
(Phyiscal Characteristics)
Two is the karyotype of the person effected by the mutation.
(Usually a blood test which will reveal mutation or absence of the second X chromosome)
By doing Karyotyping it is possible to discover mosacism.
Mosaic Turner's Syndrome (what I have) is where not all of the cells are effected by the mutation, but a proportion of them.
This karyotyping test generally done by blood testing, is only a reflection of the effected blood cells, but at present is taken to be an average of all the systems.
This is because with Turner's Syndrome, short of biopsying every part of the body, there is no way to tell how each sytem or tissue of the body is effected.
So while over a third of my blood cells are effected, it is quite possible that none of my skin cells are effected, or perhaps that all of my brain cells are effected and more than half of my heart cells.
Turner's Syndrome, mosaic or not, is as random a syndrome as it gets.
This randomness is further mixed up as there is no direct link the proportion of effected cells and the phenotypes/characteristics presented in the single person.
This is why my friend who is less than 20% mosaic has short stature at 4ft5' and I who have over 30% mosaic have normal stature at 5ft7".
This variation seems to occur across all of the phenotypes/charactereistic of the syndrome.
Or so I've read and read again.
This was also how it was explained to me by a yale genetisist after my diagnosis.
Three that I know of off the top of my head, possibly more.
One is where there is only one X present instead of XX
two where the secondary X is ringed (the chromosome is joined like a cricle instead of creating an x-shape)
three where the secondary chromosome has fragmentation (one of the x-shaped chromosomes may be missing part or all of one of the "legs"
Now dependant on which type of mutation, there can be mental retardation, hence the myth that all Turner's women have retardation.
Again I read this online from numerous medical resources.