Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q)

Am J Med Genet. 1999 Nov 5;87(1):49-52. doi: 10.1002/(sici)1096-8628(19991105)87:1<49::aid-ajmg10>;2-4.


We describe a 34-year-old healthy woman with isochromosomes for the short and long arm of chromosome 9 who was ascertained because of repeated spontaneous abortions. Molecular analysis demonstrated maternal uniparental isodisomy for the whole chromosome 9, thus the origin of the isochromosomes was maternal. Because the patient had a normal phenotype, the maternal isodisomy supports the previous assumption that there are no maternally imprinted genes on chromosome 9.

Publication types

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

MeSH terms

  • Abortion, Spontaneous / genetics
  • Adult
  • Alleles
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 9 / genetics*
  • Family Health
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Isochromosomes / genetics*
  • Male
  • Microsatellite Repeats
  • Phenotype
  • Pregnancy