Application of fluorescent in situ hybridization for 'de novo' anomalies in prenatal diagnosis

Prenat Diagn. 1993 Sep;13(9):825-32. doi: 10.1002/pd.1970130906.

Abstract

Fluorescent in situ Hybridization (FISH) was carried out for three cases of abnormal karyotypes in prenatal studies. Two concerned de novo structural anomalies and the third a marker chromosome. The origin of the extra material could be defined in all three cases, which gives a better insight into the relationship between genotype and phenotype and makes more adequate genetic counselling possible.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Chromosome Aberrations / diagnosis*
  • Chromosome Aberrations / genetics
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 18
  • DNA Probes
  • Dandy-Walker Syndrome / diagnosis
  • Dandy-Walker Syndrome / genetics
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Infant, Newborn
  • Karyotyping
  • Pregnancy
  • Pregnancy Trimester, Second
  • Pregnancy Trimester, Third
  • Prenatal Diagnosis / methods*
  • Translocation, Genetic
  • Trisomy

Substances

  • DNA Probes