Akademik Veri Yönetim Sistemi
Türkiye Klinikleri Sağlık Bilimleri Dergisi, cilt.16, ss.54-57, 2007 (Hakemli Dergi)
Recently, taking account of ethnic diversity, the prevalence of
22q11 microdeletion syndrome is reported as one in 4500-7600 live
births. It is now known that DiGeorge syndrome, velocardiofasial
syndrome (Shprintzen syndrome), Opitz G/BBB and conotruncal
anomaly face syndrome may be the phenotypic variants of this microdeletion
syndrome. A thirteen-year-old boy was brought with a
history of generalized tonic-clonic attack accompanied with loss of
consciousness. 22q11 deletion was determined by molecular cytogenetic
examination in patient who was evaluated because of hypocalcemic
convulsion. Oral calcium supplements and 1,25-cholecalciferol
treatment was suggested to the patient and externalised after genetic
counseling was given. 22q11 deletion should always be examined
since the presence of dysmorphic findings in patients diagnosed as
hypoparathyroidism in childhood.