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J Pediatr Genet 2013; 02(04): 197-201
DOI: 10.3233/PGE-13069
DOI: 10.3233/PGE-13069
Case Report
Constitutional trisomy 8 mosaicism syndrome: case report and review
Verantwortlicher Herausgeber dieser Rubrik:
Weitere Informationen
Publikationsverlauf
07. September 2013
21. Dezember 2013
Publikationsdatum:
27. Juli 2015 (online)

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.