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

8 Citations (Scopus)

Abstract

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
Volume2
Issue number4
DOIs
Publication statusPublished - 2013
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

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

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