Murat ÖZKALE, İlknur EROL

Konvülziyon nedeni ile başvuran iki ergen olguda 22q11.2 mikrodelesyonu

DiGeorge sendromu, velo-kardiyofasiyal sendrom, konotrunkal anomali yüz sendromunu kapsayan 22q11.2 mikrodelesyonu, 22. kromozomun uzun kolunun kısa segmentindeki bir delesyon sonucu meydana gelir. Bu sendromun görüldüğü olgular; öğrenme güçlüğü, dismorfik yüz görünü- mü, kalp anomalileri, hipokalsemi, hipoparatiroidizm, yarık damak, timus anomalileri, immün yetersizlik, konuşma ve beslenme sorunlarını içeren geniş bir klinik yelpazeye sahiptir. Bu sendromla ilişkili olduğu bildirilmiş klinik özelliklerin sayısı 180den fazladır. Olguların hepsinde tüm ano- maliler bulunmayabilir. Bu yazıda; nöbet geçirme nedeni ile hastanemize başvuran hafif zeka geriliği ve dismorfik yüz görünümü ile 22q11.2 mik- rodelesyonu saptanan 12 yaşında bir kız hasta ile, nöbet geçirme yakın- ması ile başvuran öyküsünden otizm nedeni ile başka bir merkezde izle- nildiği öğrenilen, hipokalsemi, hipoparatiroidi, dismorfik yüz görünümü ve zeka geriliği nedeniyle 22q11.2 mikrodelesyonu saptanan 13 yaşındaki bir erkek hasta sunulmuştur. (Türk Ped Arş 2014; 49: 70-3)

22q11.2 microdeletion in two adolescent patients who presented with convulsion

22q11.2 microdeletion which involves DiGeorge syndrome, velo-cardi- ofacial syndrome and conotruncal anomaly face syndrome occurs as a result of a deletion in the short segment of the long arm of the 22th chromosome. Patients with this syndrome have a wide clinical spectrum including learning difficulty, dysmorphic face, cardiac anomalies, hypo- calcemia, hypoparathyroidism, cleft palate, thymus anomalies, immune failure and speech and feeding problems. The number of clinical cha- racteristics which have been reported to be related with this syndrome is higher than 180. All anomalies may not be present in all patients. In this article, a 12-year old female patient who was found to have 22q11.2 microdeletion with mild mental retardation and dysmorphic face and who presented to our hospital because of convulsion and a 13-year old male patient who was found to have 22q11.2 microdeletion with hypo- calcemia, hypoparathyroidism, dysmorphic face and mental retardation and who presented to our hospital because of convulsion (it was learned from his history that he was being followed up in another center because of autism) were presented. (Türk Ped Arş 2014; 49: 70-3)

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