Learn about Fragile X Syndrome Video

Lakshmi Mehta, M.D Medical Genetics from Mount Sinai Medical Center talks about Martin-Bell syndrome.
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Host: Fragile X what does that mean? Lakshmi Mehta: That’s a separate condition, which you have to distinguish between chromosome abnormalities and problems within individual genes. Fragile X the name came because you know, they have these large families where boys had mental retardation, we knew that the gene had to lay on the X chromosome because it seem to be linked by women and you know the affected boys had the certain picture that those recognizable, but when they were studying these families in the old days all they had available was chromosomes. So we use to do chromosomes on these boys, one day in the lab in Australia, they actually were doing chromosome analysis at this somewhat chrome level that we have, they notice that every boy have the mental retardation and had a snap. They had a little break in the X chromosome at its tip, so it got its name, we called it Fragile X. The Xen fragile of that -- Host: Now they make sense? Lakshmi Mehta: But it’s only -- I think it was 1991 when we found out what exactly is going on at that where the X look like it was -- and what’s going on there is that there is an individual gene there, which you can’t see out of the microscope by a chromosome test, but you can do separate test. Host: So a Fragile X you said boys, but can’t girls have Fragile X like? Lakshmi Mehta: They can sometimes. Host: That’s kind of real? Lakshmi Mehta: It’s much rare, about a third of girls who carry that genetic abnormality may actually have some degree of developmental problems. But usually milder than boys that’s because you know, the girls have two X chromosomes, so one normal X can sometimes compensate.

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