A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus

Hum Genet. 1979 Jan 25;46(2):159-62. doi: 10.1007/BF00291917.

Abstract

Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 19-20*
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Phenotype
  • Prenatal Diagnosis
  • Translocation, Genetic*