Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report

Prenat Diagn. 2002 Nov;22(11):973-5. doi: 10.1002/pd.444.


An isodicentric X chromosome, idic (X)(q27) was found in a female fetus during cytogenetic studies performed on amniotic cells due to advanced maternal age. No mosaicism was observed. Although segmental inversion duplications have been described for several other chromosomes, isodicentric chromosomes are reported only for gonosomes. Genetic counselling was based on ultrasound findings, cytogenetic replication studies and published cases of X chromosomes duplications ascertained pre- and postnatally. The pregnancy resulted in the birth of a healthy female infant.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Chromosome Aberrations*
  • Chromosomes, Human, X / genetics*
  • Cytogenetic Analysis
  • Dosage Compensation, Genetic
  • Female
  • Genetic Counseling
  • Genetic Diseases, X-Linked*
  • Gestational Age
  • Humans
  • In Situ Hybridization, Fluorescence
  • Maternal Age
  • Pregnancy
  • Pregnancy Outcome*
  • Pregnancy, High-Risk
  • Spectral Karyotyping