Publication: Uniparental Disomy and Genomic Imprinting in Humans
Uniparental Disomy and Genomic Imprinting in Humans
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Schinzel, A. (1996). Uniparental Disomy and Genomic Imprinting in Humans. Acta Geneticae Medicae et Gemellologiae, Twin Research, 45, 145–152. https://doi.org/10.1017/s0001566000001239
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Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans. First hints from the premolecular era towards its existence came from instances where a pericentric inversion was present on one homologue in a parent and on both in one offspring [2] and where there was transmission of an interhomologous Robertsonian translocation (of chromosome 22) from a healthy mother to healthy off
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- Schinzel, A
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Schinzel, A. (1996). Uniparental Disomy and Genomic Imprinting in Humans. Acta Geneticae Medicae et Gemellologiae, Twin Research, 45, 145–152. https://doi.org/10.1017/s0001566000001239
