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

摘要

22q11.2 microdeletion which involves DiGeorge syndrome, velo-cardiofacial 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, hypocalcemia, hypoparathyroidism, cleft palate, thymus anomalies, immune failure and speech and feeding problems. The number of clinical characteristics 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 hypocalcemia, 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.