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Achondroplasia is inherited in an autonomic dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have very severe problems with bone growth, and are usually stillborn or die shortly after birth from respiratory failure.

2007-01-03 02:29:45 · 2 answers · asked by Anonymous in Science & Mathematics Medicine

2 answers

Achondroplasia is a genetic disorder that is a common cause of dwarfism. There is a gene (fibroblast growth factor receptor 3, or FGFR3) in humans that is normally responsible for regulating bone growth. In the case of dwarfism, one of these genes is mutated. (If two copies are mutated, the child will usually die during or shortly after birth.)

It is not necessary for parents to pass on the gene. In 80% of the cases of dwarfism, the parents are average sized. The cases result from a new mutation of the gene. In the remaining 20% of the cases, the gene *is* inherited from the parents.

2007-01-03 02:49:04 · answer #1 · answered by Puzzling 7 · 2 0

This is the biggest bunch of homework I've ever seen.

2007-01-03 02:44:11 · answer #2 · answered by Anonymous · 0 0

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