Maternal uniparental disomy of chromosome X

A uniparental disomy of maternal 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 mother is a carrier and specific phenotype depends on the inherited disorder.

Thin vermilion border

Reduced width of the skin of vermilion border region of upper lip.


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PMID (PMCID)