Lakshmi Mehta, M.D Medical Genetics from Mount Sinai Medical Center talks about Turner Syndrome
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Host: Is there a condition called Turner syndrome. What is Turner syndrome? Lakshmi Mehta: That’s another sex chromosome where instead of two X chromosomes in a girl or an X and Y there is only one X chromosome present, and those people are girls because there is no Y chromosome, but they have problems with the varying function, so the ovaries do not develop normally. Actually, a whole lot of -- somehow nature or development is such that it does not tolerate missing a whole chromosome. So, a lot of pregnancies that have Turner syndrome of 45X chromosome actually miscarried maybe like 90, 95. Host: But if they do? Lakshmi Mehta: If they survive to term and get warned, they have this condition called Turner Syndrome. Host: -- baby in a nursery with there is something you would notice on a Turner syndrome over? Lakshmi Mehta: You may and this baby might have like a broad, neck or like a little extra skin fold, which we called webbing, there could be swelling of the hands of feet, which we call lymphedema, which is like extra tissue fluid, there could be heart effect. Host: What kind of heart effect? Lakshmi Mehta: Typically, it’s a life side in heart effect and co-optation is by common internal syndrome, maybe very difficult to diagnosis in a pregnancy co-optation it’s something you only diagnose confidently -- Host: If they where missed, they would be growing short? Lakshmi Mehta: Right, and then -- Host: So -- Lakshmi Mehta: We develop short -- usually around three years of age or so as when as their growth starts to tedding off. They may have some relatively minor make physical things like ear, cocked ears things like that and there is a sign where this bone is short to fold -- so they have a tend to have make a little V-shape notch here in the fist. So, this is few minor physical problems, heart effects, growth problems and later on its ovarian genesis and infertility. Host: So they have to go to with an -- to get. Lakshmi Mehta: Right, both for growth and for hormone replacement. Host: So any growth hormone and probably have birth control processing? Lakshmi Mehta: Right. So they get -- you know with birth control and he have a normal lower reproductive track, so that they can -- Host: Men’s really -- are they normal a little bit slow or? Lakshmi Mehta: They can most of time are normal and have a good quality of life, but some again have some learning issues you know something to do with abstract it starts like maths and things like that, so they can have some specific like learning --
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