Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

  title={Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?},
  author={Dieter Kotzot},
  journal={Journal of medical genetics},
  volume={39 10},
Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms of formation are trisomy rescue, monosomy rescue, post-fertilisation errors, and gamete complementation. Problems associated with UPD include trisomy mosaicism, genomic imprinting, homozygosity of autosomal recessive mutations, or even a combination of these. Supernumerary marker chromosomes (SMCs) are predominant in only a proportion of cells leading to a specific kind of trisomy… CONTINUE READING


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