Prenatal diagnosis of a partial 8p trisomy

Prenat Diagn. 1990 Aug;10(8):533-8. doi: 10.1002/pd.1970100809.

Abstract

The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;p11). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.

Publication types

  • Case Reports

MeSH terms

  • Amniocentesis*
  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Pregnancy
  • Trisomy*