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Материнська уніпарентна дисомія хромосоми 6

ORPHA:96181· ICD-10 Q99.8· Maternal uniparental disomy of chromosome 6 syndrome

Визначення(English summary)

Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.

Поширеність
<1 / 1 000 000
Вік початку
Antenatal, Neonatal