Hipokalsemik Konvülziyon Nedeniyle Basvuran Adolesan Bir Olguda 22q11 Delesyonu

Giray Bozkaya Ö., Unal E., Bora E., Ülgenalp A., Böber E., Büyükgebiz C. A., ...More

Türkiye Klinikleri Sağlık Bilimleri Dergisi, vol.16, pp.54-57, 2007 (Peer-Reviewed Journal)

  • Publication Type: Article / Case Report
  • Volume: 16
  • Publication Date: 2007
  • Journal Name: Türkiye Klinikleri Sağlık Bilimleri Dergisi
  • Journal Indexes: TR DİZİN (ULAKBİM)
  • Page Numbers: pp.54-57
  • Dokuz Eylül University Affiliated: Yes


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.