Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation

Prenat Diagn. 2004 Aug;24(8):623-6. doi: 10.1002/pd.933.

Abstract

Objectives: To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation.

Methods: Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development.

Results: All cells examined showed a 47, XY, +idic(9p)(pter-->q12::q12-->pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy-Walker malformation.

Conclusions: This case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy-Walker malformation is detected via prenatal ultrasonography.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Aneuploidy*
  • Chorionic Villi Sampling
  • Chromosomes, Human, Pair 9*
  • Dandy-Walker Syndrome / diagnostic imaging
  • Dandy-Walker Syndrome / genetics*
  • Female
  • Gestational Age
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Pregnancy
  • Prenatal Diagnosis*
  • Ultrasonography, Prenatal