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Однобатьківська материнська дисомія хромосоми Х

ORPHA:261519· ICD-10 Q99.8· Maternal uniparental disomy of chromosome X syndrome

Визначення(English summary)

A uniparental disomy of maternal 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 mother is a carrier and specific phenotype depends on the inherited disorder.

Поширеність
Unknown
Вік початку
Neonatal