22q11.2 deletion sendromu

22q11.2 deletion sendromu (22q11 deletion sendromu), kromozom anomalisi kökenlidir; olguların bir bölümünün kalıtsal olduğu saptanmıştır.[1][2] Çok sayıda fenotipi vardır.[3]

Ortak bulgular[4][5][6][7]

Fenotipler

Çok ender olguların ayrıntıları verilmemiştir.

  • DiGeorge sendromu
  • Shprintzen sendromu (Velocardiofacial sendrom, Sedlackova sendromu): Çok ender
  • Conotruncal anomaly face sendromu: Çok ender
  • Opitz GBBB sendromu (otosomal dominant tipi)
  • Asimetrik ağlayan yüz sendromu (Cardiofacial sendrom-Carney): Çok ender
  • Polydactilia-dental-vertebral sendrom: Çok ender

Fenotiplere özgü bulgular

Kaynakça

  1. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet, 370:1443–1452, 2007
  2. Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz GBBB syndrome. Human Mutation, 29:584–594, 2008
  3. Tan TY, Collins A, James PA, et al. Phenotypic variability of distal 22q11.2 copy number abnormalities. American Journal of Medical Genetics A, 155:1623–1633, 2011
  4. Nordgarden H, Lima K, Skogeda Nl, et al. Dental developmental disturbances in 50 individuals with the 22q11.2 deletion syndrome; relation to medical conditions? Acta Odontologica Scandinavica, 70(3):194-201, 2012
  5. McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nature Reviews Disease Primers, 1:15071, 2015
  6. Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics, 170A:2611–2616, 2016
  7. McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C, et al. Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/ velocardiofacial syndrome). American Journal of Medical Genetics A, 140:906–909, 2006
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.