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Diseases » Chromosome conditions » Glossary
 

Glossary for Chromosome conditions

  • All Disease Categories: All major disease categories
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Autosomal chromosome conditions: Any conditions that are related to any non-sex-determining chromosome
  • Chromosome deletion syndromes: Genetic conditions where a large part of a chromosome is missing.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • DiGeorge's syndrome: Rare form of primary immune deficiency
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
  • Female reproductive toxicity -- Ethylene Oxide: Exposure to Ethylene Oxide, a recognized reproductive toxicant, can negatively affect the female reproductive system. Ethylene Oxide is used in pesticides as well as disinfectants. The severity and nature of the adverse effect is variable and can be influenced by factors such as level of exposure and individual sensitivity to the chemical. Effects on the female reproductive systems can include such things as menstrual problems, altered sexual behavior, infertility, altered puberty onset, altered length of pregnancy, lactation problems, altered menopause onset and pregnancy outcome.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Imprinted chromosome conditions: Conditions caused by gene imprinting.
  • Non-Contagious Diseases: Any disease that is not contagious
  • Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
  • Patau syndrome: A condition characterised by autosomal trisomy
  • Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
  • Sex chromosome conditions: Any condition that affects the sex chromosomes
  • Trisomy 22: A disorder that is characterised by the occurrence of three copies of chromosome 22
  • Trisomy conditions: Any condition that is characterised by the occurrence of 3 of the same chromosome in an individuals genetic sequence
  • Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.

 

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