First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes

Prenat Diagn. 1989 Aug;9(8):555-8. doi: 10.1002/pd.1970090804.

Abstract

A (14;21) homozygous Robertsonian translocation was detected by first-trimester prenatal diagnosis. The related parents were heterozygous for the same translocation. At birth the baby was physically normal and had a normal psychomotor development. Together with a few previous observations in living homozygotes for (13;14) translocations, this case corroborates the idea that these subjects with 44 chromosomes are healthy without dysmorphic features.

MeSH terms

  • Chromosomes*
  • Consanguinity
  • Female
  • Homozygote*
  • Humans
  • Karyotyping
  • Pedigree
  • Pregnancy
  • Pregnancy Outcome
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*
  • Translocation, Genetic*