Paternal uniparental disomy of chromosome 7

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Synonyms: UPD(7)pat

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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Paternal uniparental disomy of chromosome 7?

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