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Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation.

Abstract
Trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.
AuthorsY A Bureau, W Fraser, B Fouquet
JournalPrenatal diagnosis (Prenat Diagn) Vol. 13 Issue 2 Pg. 79-85 (Feb 1993) ISSN: 0197-3851 [Print] England
PMID8464839 (Publication Type: Case Reports, Journal Article)
Topics
  • Adult
  • Amniocentesis
  • Brain (abnormalities, embryology)
  • Cerebellum (abnormalities, diagnostic imaging, embryology)
  • Chromosomes, Human, Pair 9
  • Dandy-Walker Syndrome (diagnosis, genetics)
  • Female
  • Fetal Diseases (diagnosis, genetics)
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Magnetic Resonance Imaging
  • Male
  • Mosaicism
  • Pregnancy
  • Pregnancy Trimester, Third
  • Trisomy
  • Ultrasonography, Prenatal

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