Trizomi 8 mosaisizmi: Bir Olgu Sunumu
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Date
2018
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info:eu-repo/semantics/openAccess
Abstract
Warkany sendromu 2 veya Trizomi 8 mosaisizmi iyi tanımlanmış,ancak çok nadir, kromozomal anomalidir. Fenotip normalile şiddetli malformasyon sendromu arasında son derece değişkenlikgösterir. Geniş klinik bulgular yelpazesi nedeniyle,tanı atlanabilir. Trizomi 8 mosaisizmi pek çok organ sisteminietkileyerek intrakraniyal, genitoüriner ve iskelet sistemi anomalileri,konjenital kardiyovasküler bozukluklar, derin palmarve plantar kıvrımlar, neoplastik ve hematolojik bozukluklarasebep olabilir. Burada dismorfik yüz ve gecikmiş gelişim nedeniyledeğerlendirilen 3 yaşındaki bir erkek çocukta saptananTrizomi 8 mosaisizmi sunulmaktadır.
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
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
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Pediatri
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Zeynep Kamil Tıp Bülteni
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Volume
49
Issue
1
