Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion

Clin Genet. 1993 Nov;44(5):262-9. doi: 10.1111/j.1399-0004.1993.tb03894.x.


We report the prenatal diagnosis of a karyotype 46,XY,rec(6)dup p, inv(6) (p23q27) mat detected by fluorescence in situ hybridization using chromosome 6pter and 6qter specific DNA markers. This partial duplication-deletion (6p12-->pter; 6q27-->qter) emanated from a balanced pericentric inversion 46,XX inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with the same unbalanced anomaly are described. This report illustrates the sensitivity and specificity of fluorescence in situ hybridization (FISH) and its benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal rearrangements.

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abortion, Therapeutic
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 6*
  • Facial Bones / abnormalities
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Kidney / abnormalities
  • Male
  • Monosomy*
  • Mosaicism
  • Pedigree
  • Pregnancy
  • Pregnancy Trimester, First
  • Pregnancy Trimester, Second
  • Pregnancy in Diabetics
  • Prenatal Diagnosis*
  • Skull / abnormalities
  • Trisomy*