Constitutional trisomy 8 mosaicism syndrome: case report and review

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...

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Published inJournal of pediatric genetics (Birmingham, Ala.) Vol. 2; no. 4; pp. 197 - 201
Main Authors Udayakumar, Achandira M., Al-Kindy, Adila
Format Journal Article
LanguageEnglish
Published New York Georg Thieme Verlag KG 01.12.2013
Stuttgart
Subjects
Case Report
FISH
trisomy 8 mosaicism
Warkany syndrome
Dysmorphic features
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Summary: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.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ISSN:2146-4596
2146-460X
DOI:10.3233/PGE-13069