Orphanet: Paternal uniparental disomy of chromosome X

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Disease definition

A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.

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Paternal uniparental disomy of chromosome X

ORPHA:261524

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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