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Fragile X

Fragile X. By: Tag, Betsy, Dan, Mindy and Lila. Characteristics of “Fragile X” Syndrome. A genetic condition caused by spontaneous breaks in the long arm of the X chromosome Males are usually more severely affected than females

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Fragile X

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  1. Fragile X By: Tag, Betsy, Dan, Mindy and Lila

  2. Characteristics of “Fragile X” Syndrome • A genetic condition caused by spontaneous breaks in the long arm of the X chromosome • Males are usually more severely affected than females • ranges from subtle learning disabilities and a normal IQ, to severe mental retardation and autism

  3. Symptoms • Coarse facail features • Large forehead & ears • Asymmetric long face • High arched pallet • Distorted feet • Metal retardation

  4. Modes of Inheritance • X-linked recessive • The symptoms and effects worsen as generation progresses (Anticipation) • A permutation is susceptible to expansion after passage through a female meiosis. The larger the size of a woman’s permutation, the more the risk of expansion to a full mutation in her offspring

  5. Detection • Xq27.3 gene loci • CGG repeats • Normally the range of from 7 to 52 mutations • Premutation is 50 to 200 repeats • In a full mutation, the number is almost always several hundred (720 repeats)

  6. Pedigree

  7. Frequency of Occurrence • Approximately 1 in 1,200 males and 1 in 2,500 females • It is estimated that 1 in 260 females are carriers of the permutation • Estimated that 90% of individuals that have Fragile X syndrome have not been diagnosed

  8. Diagnosis • This is a micrograph of two chromosomes of a female and an X and Y chromosome of a male • The arrows point to the region known as a fragile site which was the original means of diagnosis for fragile X syndrome. • indentation at the bottom of each looks as if it is ready to break

  9. Treatments • Currently there is no cure • Treat symptoms though educational, medical and behavioral management techniques

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