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J Pediatr Genet 2013; 02(04): 197-201
DOI: 10.3233/PGE-13069
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Constitutional trisomy 8 mosaicism syndrome: case report and review

Achandira M. Udayakumar
a   Cytogenetics Unit, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman
,
Adila Al-Kindy
b   Clinical Genetics Unit, Department of Genetics, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman
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Publication History

07 September 2013

21 December 2013

Publication Date:
27 July 2015 (online)

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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.

Keywords

Dysmorphic features - FISH - trisomy 8 mosaicism - Warkany syndrome