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Материнська уніпарентна дисомія хромосоми 13

ORPHA:97678· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 13 syndrome

Визначення(English summary)

Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Поширеність
<1 / 1 000 000
Вік початку
Adult