Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15

Abnormal phenotypes in uniparental disom

Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15

✍ Kotzot, Dieter 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from only one parent. The bases are always two events, either two meiotic, or one meiotic and one mitotic, or two mitotic. An aberrant imprint, homozygosity of autosomal recessive gene mutations, homozygosity of Xchromosomal