Partial trisomy 8q and partial monosomy 18p: a case report

Ann Genet. 2004 Oct-Dec;47(4):399-403. doi: 10.1016/j.anngen.2004.07.004.

Abstract

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18*
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Monosomy / genetics*
  • Monosomy / pathology
  • Mothers
  • Trisomy / genetics*
  • Trisomy / pathology