Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype

Clin Genet. 2001 Nov;60(5):371-3. doi: 10.1034/j.1399-0004.2001.600509.x.


We report a familial deletion of (8q) detected in amniocytes of a fetus with a normal ultrasound and in the phenotypically normal mother, who has now had three pregnancy losses. Chromosome analysis of amniocytes and maternal peripheral blood cells showed an interstitial deletion of (8)(q24.13q24.22), which is distal to the region associated with Langer-Giedion syndrome (LGS) or trichorhinophalangeal (TRP) syndrome. This deletion was confirmed by fluorescence in situ hybridization with a c-myc cosmid clone and chromosome 8 painting library.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Fetal Death / genetics
  • Gene Deletion*
  • Humans
  • Phenotype*
  • Pregnancy