Uniparental disomy may have no clinical consequence by
itself. It is occasionally detected by the unmasking of a recessive
disorder for which only one parent is a carrier when there is
isodisomy for the parental chromosome carrying such a
mutation. In this rare situation the child would be affected by a
recessive disorder for which the other parent is not a carrier.
Recurrence risk for the disorder in siblings is extremely low
since UPD is not likely to occur again in another pregnancy.
The other situation in which UPD will have an effect is
when the chromosome involved contains one or more
imprinted genes, as described in the next section.
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