Host: There is a condition called Turner Syndrome, what is Turner Syndrome?
Dr. Lakshmi Mehta: That's another sex chromosome abnormality where instead of two X chromosomes in a girl or an X and a Y there is only one X chromosome present and those people are girls because there is no white chromosome but they have problems with the variant function. So the ovaries do not develop normally. Actually a whole lot of somehow major or development is such that it does not tolerate missing a whole chromosome. So a lot of pregnancies that have Turner Syndrome or 45, X chromosomes actually miscarry, maybe like 90, 96. It is a Y2 (ph) term and get born, they have this condition called Turner Syndrome.
Host: If you saw a baby in a nursery, it would be something you would notice in a Turner Syndrome over --?
Dr. Lakshmi Mehta: You may, this baby might have like a broad neck or like a little extra skin fold which we call Webbing, and they could be swelling of the hands or feet which we call Lymphedema, which is like extra tissue fluid, there could be a heart defect.
Host: What kind of a heart defect?
Dr. Lakshmi Mehta: Typically it's a left-sided heart defect and coarctation is quite common in Turner Syndrome. Maybe very difficult to diagnose in pregnancy coarctation. It's something you only diagnose confidently.
Host: If they were missed they would be growing short, sometimes how do you get a referral?
Dr. Lakshmi Mehta: And then you develop short -- usually around three years of age or so as when their growth starts tanning off. They may have some relatively minor like physical things like ear, cup ears, things like that and there is a sign where this bone is short, the fourth metacarpal. So they tend to have like a little V shaped notch here in the fist. So these are few minor physical problems, heart defects, growth problems and later on it's wearing the genesis and infertility.
Host: So they have to go to an ethnologist (ph) to get --
Dr. Lakshmi Mehta: Right, both for growth and for hormone replacement.
Host: So any growth form normally and probably then birth control process, something, right?
Dr. Lakshmi Mehta: Right, so they get cycled with birth control pills and they have a normal lower reproductive tract so they can --
Host: Mentally are they normal or little bit slow or --?
Dr. Lakshmi Mehta: They can -- most of the time are normal and have a good quality of life, but some again, have some learning issues, something to do with the abstract stuff like math and things like that. So they can have some specific like learning.
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