DiGeorge Sendromu
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Tarih
2016
Yazarlar
Dergi Başlığı
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Cilt Başlığı
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
DiGeorge sendromu (DGS), nöral krest gelişim ve migrasyon defektine bağlı oluşan en sık görülen mikrodelesyon sendromudur. Tipik delesyon bölgesinde 35'ten fazla gen bulunması nedeniyle fenotip oldukça değişkendir. Ancak bu hasta grubundaki genotipfenotip korelasyonu oldukça zayıftır. Fasiyal dismorfizm, mentalmotor gelişim basamaklarında gecikme ve makrotrombositopenisi olan her çocuk DGS'nun diğer bulguları açısından sorgulanmalı, gerekirse tetkik edilmelidir. Tüm bulguların birarada olması gerekmediği akılda tutulmalıdır. Tanı alan hastaların hayatlarının değişik evrelerinde değişik problemlerle karşılaşacağı bilinmeli, hasta ve ailesine yeterli genetik danışmanlık verilmelidir. Bu derlemede, sık rastlanan bir delesyon sendromu olduğu halde tanısının çok kolay atlandığı ve tanı konduktan sonra da takipte zorlukların çekildiği DGS ile ilgili ayrıntılı bilgi vermek ve farkındalığı artırmak amaçlanmıştır.
DiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical deletion region. However, the genotypephenotype correlation is very weak in this patient group. Every patient with facial dysmorphism, delay in developmental milestones and macrothrombocytopenia should be questioned for the other specific findings of DGS, and tested if needed. All findings do not have to be together to make the diagnosis. It should be known that patients experience different problems at different stages of their lives, and genetic counseling should be provided to the patients and their families. Our aim in this review was to provide detailed information and raise awareness about DGS as it is common but rarely diagnosed, and presents many difficulties during follow-up.
DiGeorge syndrome, which is caused by abnormal development and migration of neural crest cells, is the most common microdeletion syndrome. The phenotype is variable due to the existence of more than 35 genes in the typical deletion region. However, the genotypephenotype correlation is very weak in this patient group. Every patient with facial dysmorphism, delay in developmental milestones and macrothrombocytopenia should be questioned for the other specific findings of DGS, and tested if needed. All findings do not have to be together to make the diagnosis. It should be known that patients experience different problems at different stages of their lives, and genetic counseling should be provided to the patients and their families. Our aim in this review was to provide detailed information and raise awareness about DGS as it is common but rarely diagnosed, and presents many difficulties during follow-up.
Açıklama
Anahtar Kelimeler
DiGeorge Sendromu, Hipoparatiroidizm, Konotrunkal kalp anomalisi, Makrotrombositopeni, DiGeorge Syndrome, Hypoparathyroidism, Conotruncal-cardiac defect, Macrothrombocytopenia
Kaynak
Astım Allerji İmmünoloji
WoS Q Değeri
Scopus Q Değeri
Cilt
14
Sayı
3
Künye
Reisli, İ., Göktürk, B. (2016). DiGeorge Sendromu. Astım Allerji İmmünoloji, 14, 3, 129-142.
