Constitutional trisomy 8 mosaicism syndrome: Case report and review

Achandira M. Udayakumar*, Adila Al-Kindy

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

Original languageEnglish
Pages (from-to)197-201
Number of pages5
JournalJournal of Pediatric Genetics
Issue number4
Publication statusPublished - 2013


  • Dysmorphic features
  • FISH
  • Trisomy 8 mosaicism
  • Warkany syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)


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