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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • DBQD
  • Desbuquois dysplasia
  • Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
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Inheritance


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How is Debuquois syndrome inherited?

Desbuquois syndrome has been shown to follow an autosomal recessive pattern of inheritance.[1] This means that an individual must have two mutated (changed) copies of the gene that causes the disorder in each of his/her cells. The affected individual inherits one of the mutated genes from each parent; the parents are referred to as carriers. Carriers typically do not display signs and symptoms of an autosomal recessive condition. When two individuals who are carriers have children, with each pregnancy there is a 25% (1 in 4) risk for the child to have the condition, a 50% (1 in 2) risk for the child to be a carrier like each of the parents, and a 25% chance for the child to not be a carrier and not have the condition.
Last updated: 6/14/2011

References
  1. Laurence Faivre and Valerie Cormier-Daire. Debuquois syndrome. Orphanet. February 2005; http://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf. Accessed 6/14/2011.