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Материнська уніпарентна дисомія хромосоми 1

ORPHA:251009· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 1 syndrome

Визначення(English summary)

Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Поширеність
Unknown
Успадкування
Not applicable, Unknown
Вік початку
Infancy, Neonatal