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DiGeorge Sendromu

Year 2004, Volume: 2 Issue: 2, 98 - 100, 01.06.2004

Sara Şebnem Kılıç Handan Aydoğdu

Abstract

DiGeorge Sendromu DGS , timus ve paratiroid bezinin konjenital yokluk sendromu olarak 1959’da bildirilmiştir. A.M. DiGeorge 1 1965 yılında immünitede timusun önemli bir rolü olduğunu göstererek, hipoparatiroidizm, timik hipoplazi ve tekrarlayan enfeksiyon geçiren olgularını bildirmiş, böylece timik aplazi ve konjenital hipoparatiroidizm birlikteliği ‘DiGeorge Sendromu’ olarak adlandırılmıştır. La Chapelle 2 1981’de bir ailenin dört etkilenen bireyinde 22. kromozom translokasyonunu göstererek bu sendromun genetik orjini için ilk ipuçlarını sağlamıştır.

References

  • 1. DiGeorge AM. Discussions on a new concept of the cellular basis of immunology. J Pediatr 1965; 67: 907.
  • 2. De la Chapelle A, Herva R, Koivisto M, et al. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981; 57: 253-256.
  • 3. Huang RY, Shapiro NL. Structural Airway Anomalies in Patients with DiGeorge Syndrome. Am J Otolaryngol 2000; 21: 326-330.
  • 4. Packham EA, Brook DJ. T-box genes in human disorders. Hum Genet 2003; 12: 37-44.
  • 5. Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivasta D. Tbx1 regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev 2003; 17: 269-281.
  • 6. Tsui KM, Ng YY, Lam TS. DiGeorge syndrome: Clinical variability in a family with submicroscopic deletion at 22q11.2. Acta Paediatr Sin 1997; 38: 52-56.
  • 7. Hong R. The DiGeorge Anomaly (Catch 22, DiGeorge/Velocardiofacial Syndrome). Semin in Hematol 1998; 35: 282-290.
  • 8. Tobias E, Morrison N, Whiteford ML, Tolmie JL. Towards earlier diagnosis of 22q11 deletions. Arch Dis Child 1999; 81: 513-514.
  • 9. Bale PM, Sotelo-Avila C. Maldescent of the thymus: Thirty four necropsy and 10 surgical cases, including seven thymuses medial to the mandible. Pediatr Pathol 1993; 13: 181-190.
  • 10. Wilson DI, Burn J, Scambler P, et al. DiGeorge syndrome: Part of CATCH 22. J Med Genet 1993; 30: 852-856.
  • 11. Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr 1995; 127: 231-237.
  • 12. Markert LM, Hummell DN, Rosenblatt HM, Schiff ES, Harville TO, Williams LW, Schiff RI, Buckley RH. Complete DiGeorge syndrome: Persistence of profound immunodeficiency. J Pediatr 1998; 132: 15-21.
  • 13. Markert ML, Kosttyu DD, Ward FE, et al. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. J Immunol 1997; 158: 998-1005

Year 2004, Volume: 2 Issue: 2, 98 - 100, 01.06.2004

Sara Şebnem Kılıç Handan Aydoğdu

Abstract

References

  • 1. DiGeorge AM. Discussions on a new concept of the cellular basis of immunology. J Pediatr 1965; 67: 907.
  • 2. De la Chapelle A, Herva R, Koivisto M, et al. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981; 57: 253-256.
  • 3. Huang RY, Shapiro NL. Structural Airway Anomalies in Patients with DiGeorge Syndrome. Am J Otolaryngol 2000; 21: 326-330.
  • 4. Packham EA, Brook DJ. T-box genes in human disorders. Hum Genet 2003; 12: 37-44.
  • 5. Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivasta D. Tbx1 regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev 2003; 17: 269-281.
  • 6. Tsui KM, Ng YY, Lam TS. DiGeorge syndrome: Clinical variability in a family with submicroscopic deletion at 22q11.2. Acta Paediatr Sin 1997; 38: 52-56.
  • 7. Hong R. The DiGeorge Anomaly (Catch 22, DiGeorge/Velocardiofacial Syndrome). Semin in Hematol 1998; 35: 282-290.
  • 8. Tobias E, Morrison N, Whiteford ML, Tolmie JL. Towards earlier diagnosis of 22q11 deletions. Arch Dis Child 1999; 81: 513-514.
  • 9. Bale PM, Sotelo-Avila C. Maldescent of the thymus: Thirty four necropsy and 10 surgical cases, including seven thymuses medial to the mandible. Pediatr Pathol 1993; 13: 181-190.
  • 10. Wilson DI, Burn J, Scambler P, et al. DiGeorge syndrome: Part of CATCH 22. J Med Genet 1993; 30: 852-856.
  • 11. Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr 1995; 127: 231-237.
  • 12. Markert LM, Hummell DN, Rosenblatt HM, Schiff ES, Harville TO, Williams LW, Schiff RI, Buckley RH. Complete DiGeorge syndrome: Persistence of profound immunodeficiency. J Pediatr 1998; 132: 15-21.
  • 13. Markert ML, Kosttyu DD, Ward FE, et al. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. J Immunol 1997; 158: 998-1005
There are 13 citations in total.

Details

Primary Language Turkish
Journal Section Collection
Authors

Sara Şebnem Kılıç

Handan Aydoğdu This is me

Publication Date June 1, 2004
Published in Issue Year 2004 Volume: 2 Issue: 2

Cite

APA Kılıç, S. Ş., & Aydoğdu, H. (2004). DiGeorge Sendromu. Güncel Pediatri, 2(2), 98-100.
AMA Kılıç SŞ, Aydoğdu H. DiGeorge Sendromu. Güncel Pediatri. June 2004;2(2):98-100.
Chicago Kılıç, Sara Şebnem, and Handan Aydoğdu. “DiGeorge Sendromu”. Güncel Pediatri 2, no. 2 (June 2004): 98-100.
EndNote Kılıç SŞ, Aydoğdu H (June 1, 2004) DiGeorge Sendromu. Güncel Pediatri 2 2 98–100.
IEEE S. Ş. Kılıç and H. Aydoğdu, “DiGeorge Sendromu”, Güncel Pediatri, vol. 2, no. 2, pp. 98–100, 2004.
ISNAD Kılıç, Sara Şebnem - Aydoğdu, Handan. “DiGeorge Sendromu”. Güncel Pediatri 2/2 (June 2004), 98-100.
JAMA Kılıç SŞ, Aydoğdu H. DiGeorge Sendromu. Güncel Pediatri. 2004;2:98–100.
MLA Kılıç, Sara Şebnem and Handan Aydoğdu. “DiGeorge Sendromu”. Güncel Pediatri, vol. 2, no. 2, 2004, pp. 98-100.
Vancouver Kılıç SŞ, Aydoğdu H. DiGeorge Sendromu. Güncel Pediatri. 2004;2(2):98-100.