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Материнська уніпарентна дисомія хромосоми 21

ORPHA:96187· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 21 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
<1 / 1 000 000