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Материнська уніпарентна дисомія хромосоми 9

ORPHA:96183· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 9 syndrome

Визначення(English summary)

Maternal uniparental disomy of chromosome 9 is a 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.

Вік початку
Antenatal, Neonatal