Case report: denovo inherited 18p deletion in a mother-fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis

Eur J Obstet Gynecol Reprod Biol. 1997 Jun;73(2):193-6. doi: 10.1016/s0301-2115(97)02749-8.


Denovo deletions of 18p without other associated rearrangement are uncommon. For such a deletion to profoundly affect the fetus of a near normal phenotypic carrier would be rarer. We present such a case in which the chance of a cryptic rearrangement was ruled out by fluorescence in situ hybridization (FISH) analysis. Possible explanations for wide variations in clinical expression are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Karyotyping
  • Maternal-Fetal Exchange / genetics*
  • Phenotype
  • Pregnancy