Constitutional trisomy 8 mosaicism syndrome: Case report and review

Achandira M. Udayakumar*, Adila Al-Kindy

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمقالمراجعة النظراء

13 اقتباسات (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)197-201
عدد الصفحات5
دوريةJournal of Pediatric Genetics
مستوى الصوت2
رقم الإصدار4
المعرِّفات الرقمية للأشياء
حالة النشرPublished - 2013

ASJC Scopus subject areas

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