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Zeynep Kamil Med J. 2018; 49(1): 92-93 | DOI: 10.16948/zktipb.292901
2Lutfi Kirdar Kartal Training and Research Hospital, Family Medicine Clinic, Istanbul, Turkey
3Namik Kemal University, Faculty of Medicine, Medical Genetics, Tekirdag, Turkey
Trisomy 8 mosaicism: A Case Report
Arda Çetinkaya1, Mehmet Burak Mutlu1, Selim Karaman2, Hatip Aydın3, Cem Murat Kızıldeli1, Ali Karaman11Zeynep Kamil Women and Children Diseases Education and Research Hospital, Genetic Diagnosis Center, Uskudar, Istanbul, Turkey2Lutfi 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
Corresponding Author: Ali Karaman, Türkiye
Manuscript Language: English
Manuscript Language: English
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