Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis

Am J Med Genet. 2000 Feb 14;90(4):291-3.


Maternal and paternal uniparental disomy of chromosome 13 have been associated with normal phenotypes. We report on a new case of paternal isodisomy 13 in a phenotypically normal girl. Prenatal diagnosis had shown a 46,XX,-13,der(13;13) karyotype in chorionic villi and a 45,XX,der(13;13) karyotype in amniocytes and fetal blood. Molecular studies demonstrated that the de novo der(13;13) was an isochromosome 13 of paternal origin. This observation supports the lack of imprinting effects on chromosome 13 and trisomy rescue as a mechanism leading to uniparental disomy in cases involving isochromosomes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chorionic Villi Sampling
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 13*
  • Fathers
  • Female
  • Genomic Imprinting*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype
  • Prenatal Diagnosis*
  • Trisomy*