Prenatal detection of multiple copies of a familial supernumerary marker chromosome

Prenat Diagn. 1992 Dec;12(12):1067-71. doi: 10.1002/pd.1970121214.

Abstract

Direct preparations and long-term cultures from a chorion villus biopsy, taken because of a known maternal additional marker chromosome, showed a 48,XX,+mar,+mar karyotype in all cells examined. The same karyotype was revealed in a subsequent amniotic fluid sample and in cord blood at delivery. Detailed examination of the child at delivery and at 1 year of age showed no evidence of phenotypic abnormality or developmental problems.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chorionic Villi Sampling*
  • Chromosome Aberrations*
  • Female
  • Fetal Blood / cytology
  • Genetic Markers
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First

Substances

  • Genetic Markers