Occasionally, autosomal recessive disorders can arise through a
mechanism called uniparental disomy, in which a child inherits
two copies of a particular chromosome from one parent and
none from the other. If the chromosome inherited in this
uniparental fashion carries an autosomal recessive gene
mutation, then the child will be an affected homozygote.
Recurrence risk for future siblings is extremely low.
Saturday, April 11, 2009
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