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Glossary for X Chromosome Disorders

  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hemophilia A: A rare coagulation disorder caused by a deficiency of factor VIII which results in bleeding problems.
  • Intersex conditions: When the sex of an individual is not clear and may comprise characteristics of both sexes
  • Jacobs syndrome: A very rare syndrome characterized mainly by heart inflammation (pericardium), joint disease and permanent finger flexion. The number of joints affected is variable.
  • Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
  • Red-green color blindness: Inability to distinguish red and green colors.
  • Triple-X syndrome: A condition that is characterised by the occurrence of three X chromosomes
  • Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
  • X-Linked Agammaglobulinemia: Immune deficiency from lack of antibodies.
  • X-linked Dominant Genetic Diseases: Any disease that affects the x chromosome and is inherited in a dominant manner
  • X-linked Recessive Genetic Diseases: Genetic disease where the mutated gene is recessive and on the X chromosome


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