Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature

Clin Dysmorphol. 2012 Apr;21(2):101-105. doi: 10.1097/MCD.0b013e32834e9279.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosome Duplication
  • Chromosome Inversion
  • Chromosomes, Human, Pair 1*
  • Cytogenetic Analysis
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Fetus / abnormalities
  • Humans
  • Hydrops Fetalis / diagnosis
  • Nuchal Translucency Measurement
  • Pregnancy
  • Prenatal Diagnosis
  • Trisomy / diagnosis*
  • Trisomy / genetics*