Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring

Clin Chem Lab Med. 2013 Apr;51(4):e41-4. doi: 10.1515/cclm-2012-0416.
No abstract available

Publication types

  • Comparative Study
  • Letter

MeSH terms

  • Automation
  • Chromosome Inversion / genetics*
  • Chromosomes, Human, Pair 7*
  • False Negative Reactions
  • Genetic Counseling
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Interphase
  • Laboratories, Hospital
  • Lymphocytes / metabolism
  • Prenatal Diagnosis
  • Software
  • Williams Syndrome / genetics
  • Williams Syndrome / metabolism