Zeynep Kamil Med J. 2018; 49(1): 92-93 | DOI: 10.16948/zktipb.292901

Trisomy 8 mosaicism: A Case Report

Arda Çetinkaya¹, Mehmet Burak Mutlu¹, Selim Karaman², Hatip Aydýn³, Cem Murat Kýzýldeli¹, Ali Karaman^1
1Zeynep Kamil Women and Children Diseases Education and Research Hospital, Genetic Diagnosis Center, Uskudar, Istanbul, Turkey
²Lutfi Kirdar Kartal Training and Research Hospital, Family Medicine Clinic, Istanbul, Turkey
³Namik Kemal University, Faculty of Medicine, Medical Genetics, Tekirdag, Turkey

Warkany syndrome 2 or trisomy 8 mosaicism is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal to a severe malformation syndrome. Because of the broad spectrum of clinical findings, this condition is often underdiagnosed. Trisomy 8 mosaicism can affect several organs causing intracranial, genitourinary and skeletal system anomalies, congenital cardiovascular disorders, deep palmar and plantar creases, and neoplastic and hematological disorders. Here, we report trisomy
8 mosaicism in a 3-year-old boy evaluated for facial dysmorphism and delayed development.

Keywords: trisomy 8 mosaicism, warkany syndrome 2, facial dysmorphism, delayed development

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