LYCOS RETRIEVER 
Fragile X Syndrome
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Males with Fragile X have some common physical characteristics: a long narrow face; large or prominent ears; and macroorchidism (enlarged testicles). More than 80 percent of males with Fragile X develop at least one of these features, but often not until after puberty. Other physical characteristics of males with Fragile X are double-jointed fingers, flat feet, puffy eyelids, and "hollow chest." These physical features may indicate an underlying abnormality of the connective tissue, although no specific connective tissue defect has been detected.
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Of the other nearby fragile sites identified on the X chromosome, namely FRAX-D, FRAX-E and FRAX-F, only the FRAX-E mutation is associated with intellectual disability (Figure 2). Distinguishing these sites from FRAX-A on standard chromosome cultures has become easier with improving techniques, especially fluorescent in situ hybridization (FISH).
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This study examined whether the variability in development in fragile X syndrome is related to FMR protein deficiency in 53 young males with various degrees of the syndrome. FMR protein expression accounted for a small but significant amount of variance in level, but not rate, of development. Findings support the hypothesized relationship but suggest other factors ... play a role.
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Boys with fragile X tend to be overactive and impulsive with marked concentration problems, restlessness, fidgetiness and distractibility. Irritability, tantrums and aggressive outbursts are precipitated by environmental over stimulation, confusing situations or heightened anxiety.
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Physical – Teens and adults with Fragile X may have long ears, faces, and jaws. Many people with Fragile X may ... have loose, flexible joints. They may have flat feet and be able to extend joints like the thumb, knee, and elbow further than normal.
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Three prenatal tests can determine if Fragile X is present in the fetus. Chorionic villi sampling (CVS) involves extracting a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. CVS is not widely used and carries a 1-2 percent risk of miscarriage following the procedure.
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Fragile X Syndrome