Word: cari
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Dates: during 2000-2009
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...Cari has been just as stunned by the changes in her once outgoing father, but lately she has had some odd symptoms of her own. Though only 35, she has begun to experience hot flashes, and her menstrual periods have become brief and irregular...
...years ago, no one would have connected Max's autism and other symptoms with Gary's neurological decline or Cari's premature signs of menopause. Now, however, researchers realize that all three are caused by changes in the same gene, one that's related to a disorder called fragile X syndrome (FXS), perhaps the most complicated genetic condition you've never heard of. Max has full-blown FXS. The disorder, as its name implies, is the result of a defective gene on the X chromosome, one of the pair of chromosomes that determines gender. FXS affects roughly...
...Cari, for instance, has one normal X chromosome (with 24 repeats), inherited from her mother, and another with an abnormal 85 repeats, inherited from her father, who has 89 repeats. Cari's son Max has 363. Any number greater than 200 causes full-blown fragile X syndrome (so named because, under a microscope, the expanded X chromosome may look bent to the point of breaking). The reason boys are more likely than girls to develop major symptoms is that girls carry a pair of X chromosomes, which means that if one is defective, the other can compensate. Boys, however, carry...
People like Cari and her father, with 55 to 200 repeats, are considered carriers of a fragile X "premutation." Carriers are relatively common: about 1 in 250 women and 1 in 800 men have the premutation, though some studies suggest the prevalence is higher. Until recently no one worried too much about those numbers, since carriers were thought to be unaffected...
Premature menopausal symptoms like those Cari is experiencing are another recently discovered consequence of the premutation. Known formally as primary ovarian insufficiency, it is believed to affect about 20% of female carriers...