Paternal uniparental disomy of chromosome 7 syndrome
ORPHA:96192· ICD-10 Q99.8
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).
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy