Çocuk Sağlığı ve Hastalıkları Dergisi
2005 , Vol 48 , Num 4
A case of 22q11 deletion
1Adnan Menderes Üniversitesi Tıp Fakültesi, Pediatri Doçenti2 Adnan Menderes Üniversitesi Tıp Fakültesi, Pediatri Uzmanı
3 Adnan Menderes Üniversitesi Tıp Fakültesi, Pediatri Yardımcı Doçenti
4 Adnan Menderes Üniversitesi Tıp Fakültesi, Tıbbı Genetik Yardımcı Doçenti
5 Adnan Menderes Üniversitesi Tıp Fakültesi, Pediatrik Genetik Yardımcı Doçenti Türkmen M, Ünüvar T, Tosun A, Aydoğdu A, Ulucan H, Giray Ö. (Departments of Pediatrics and Medical Genetics, Adnan Menderes University Facultyof Medicine, Aydın, Turkey and Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey). A case of 22q11 deletion. Çocuk Sağlığı ve Hastalıkları Dergisi 2005; 48: 320-323.
The term “22q11 deletion syndrome” includes DiGeorge syndrome, velocardial- facial syndrome, and conotruncal anomaly-face syndrome and occurs with the microdeletions in 22q11 chromosomal region. Most significant clinical features are cleft palate, cardiac defects, characteristic facial appearance, timus hypoplasia, hypoparathyroidism and difficulties in speech and eating. Concerning large clinical spectrum of the disease, our case together with rare manifestations such as multicystic kidney, thrombocytopenia and giant thrombocytes is presented as a variant of the 22q11 microdeletion syndrome.
Anahtar Kelimeler : DiGeorge, konotrunkal anomali yüz sendromu, VCFS, 22q11 delesyonu, conotruncal anomaly-face syndrome, DiGeorge, VCFS, 22q11 deletion