Paternal uniparental disomy of chromosome 7
Paternal uniparental disomy of chromosome 7
Definition
Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
Also known as paternal uniparental disomy of chromosome type 7, UPD(7)pat — per MONDO