Relate the clinical facts of Fragile X syndrome or Marin-Bell syndrome as causes of inherited intellectual disability.
Added by Meghan C.
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It is caused by a mutation in the FMR1 gene located on the X chromosome. This mutation leads to a deficiency or absence of the FMRP protein, which is essential for normal brain development and function. The clinical facts of Fragile X syndrome include: Show more…
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. Fragile X syndrome is sex-linked dominant disorder. Symptoms include mild to severe intellectual disability that cause delays in talking, anxiety, and hyperactive behavior. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead, and flat feet. A woman is a carrier for Fragile X syndrome and marries a man who is healthy. What is the probability that any child, regardless of sex, will suffer from Fragile X syndrome? Can someone be a carrier for this disease? Explain. Which sex has a greater probability of inheriting Fragile X syndrome? (Consider whether a child with Fragile X is likely to reach sexual maturity and reproduce).
Bryan V.
Fragile X syndrome, caused by a change in the FMR1 gene, is the most common form of intellectual disability. In patients with this syndrome, a small part of the gene is repeated several times in one area of the chromosome. This defect in the gene makes the body unable to produce adequate amounts of a protein needed for normal brain functioning. In males, this syndrome causes a moderate intellectual disability, and in females, a mild intellectual disability. A family that exhibits Fragile X syndrome is shown in the pedigree. In the pedigree, squares represent males and circles represent females. Shaded symbols represent a person with the disorder. Which of the following correctly predicts the outcome if offspring 11 mated with a homozygous normal female, based on the inheritance pattern shown in the pedigree? The male offspring would exhibit Fragile X syndrome because Fragile X is an X-linked recessive trait. The female offspring would exhibit Fragile X syndrome because Fragile X is a recessive autosomal trait. None of their offspring would exhibit Fragile X syndrome because Fragile X is an X-linked dominant trait. Both the male and female offspring exhibit Fragile X syndrome because Fragile X is a dominant autosomal trait
Madhur L.
Sri K.
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