vitalwiki

Однобатьківська батькова дисомія хромосоми Х

ORPHA:261524· ICD-10 Q99.8· Paternal uniparental disomy of chromosome X syndrome

Визначення(English summary)

A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.

Поширеність
Unknown
Вік початку
Neonatal