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Paternal uniparental disomy of chromosome 5
Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
Rhizomelic arm shortening
Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
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PMID (PMCID)