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Батькова уніпарентна дисомія хромосоми 7

ORPHA:96192· ICD-10 Q99.8· Paternal uniparental disomy of chromosome 7 syndrome

Визначення(English summary)

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).

Поширеність
<1 / 1 000 000
Вік початку
Childhood, Infancy