Paternal uniparental disomy of chromosome X

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.

Low posterior hairline

Hair on the neck extends more inferiorly than usual.


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PMID (PMCID)