Maternal uniparental disomy of chromosome 21 in a normal child

Am J Med Genet. 1999 Mar 5;83(1):69-71. doi: 10.1002/(sici)1096-8628(19990305)83:1<69::aid-ajmg14>;2-q.


Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the maternal germline.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Aberrations / genetics*
  • Chromosomes, Human, Pair 21 / genetics*
  • Female
  • Genetic Markers
  • Genomic Imprinting
  • Genotype
  • Humans
  • Infant
  • Male
  • Phenotype
  • Polymorphism, Restriction Fragment Length
  • Prenatal Diagnosis


  • Genetic Markers