ARDA ÇETİNKAYA, Mehmet Burak MUTLU, Selin KARAMAN, Hatip AYDIN, Cem Murat KIZILDELİ, ALİ KARAMAN

Trizomi 8 mosaisizmi: Bir Olgu Sunumu

Warkany sendromu 2 veya Trizomi 8 mosaisizmi iyi tanımlanmış, ancak çok nadir, kromozomal anomalidir. Fenotip normal ile şiddetli malformasyon sendromu arasında son derece değişkenlik gösterir. Geniş klinik bulgular yelpazesi nedeniyle, tanı atlanabilir. Trizomi 8 mosaisizmi pek çok organ sistemini etkileyerek intrakraniyal, genitoüriner ve iskelet sistemi anomalileri, konjenital kardiyovasküler bozukluklar, derin palmar ve plantar kıvrımlar, neoplastik ve hematolojik bozukluklara sebep olabilir. Burada dismorfik yüz ve gecikmiş gelişim nedeniyle değerlendirilen 3 yaşındaki bir erkek çocukta saptanan Trizomi 8 mosaisizmi sunulmaktadır.

Anahtar Kelimeler:

Trizomi 8 mosaisizmi, Warkany sendromu 2, Dismorfik yüz

Trisomy 8 mosaicism: A Case Report

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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