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Uniparental isodisomy animation

Uniparental isodisomy animation

A case of fumarase deficiency occurred in a nonconsanguineous family when the patient inherited both alleles from the clinically unaffected father, who was heterozygous for the same mutations, with complete absence of the maternal homolog (Zeng et al 2006). This was a case of uniparental isodisomy. Uniparental isodisomy occurs when a single chromosome from one parent is duplicated. Isodisomy produces large blocks of homozygosity, which may produce recessive diseases (as in this case), similar to the phenomenon seen in children of consanguineous partners. (Courtesy of Wikipedia. Creative Commons Attribution-ShareAlike 3.0 Unported.)

Associated Disorders

  • Dystonia
  • Infantile spasms