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Constitutional trisomy 8 mosaicism syndrome: case report and review

Article type: Other

Authors: Udayakumar, Achandira M.; | Al-Kindy, Adila

Affiliations: Cytogenetics Unit, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Sultanate of Oman | Clinical Genetics Unit, Department of Genetics, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

Note: [] Corresponding author: Dr. Achandira M. Udayakumar, Cytogenetics Unit, Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, P.B. 35, P.C. 123 Muscat, Oman. Tel.: +968 24143492; Fax: +968 24413419; E-mail: uday. [email protected].

Keywords: Dysmorphic features, FISH, trisomy 8 mosaicism, Warkany syndrome

DOI: 10.3233/PGE-13069

Journal: Journal of Pediatric Genetics, vol. 2, no. 4, pp. 197-201, 2013

Received 7 September 2013
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Revision received 6 December 2013
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Accepted 21 December 2013
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Published: 2013
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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.