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A newborn case diagnosed as ısolated TBX1 deletion with 22q11 deletion syndrome

Year 2020, , 385 - 387, 31.03.2020
https://doi.org/10.17826/cumj.629494

Abstract

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References

  • 1. Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P et al. Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular caracterization with high-density SNP arrays. Eur J Med Gen 2009; 52: 321-327.
  • 2. Cabuk F, Karabulut HG, Tuncali T, Karademir S, Bozdayı M, Tükün A. TBX1 Gene mutation screening in patients with non-syndromic Fallot tetralogy. Turk J Pediatr 2007; 49: 61-68.
  • 3. Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS et al. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. Ultrasound Obstet Gynecol 2014; 43: 396-403.
  • 4. Choi M, Klingensmith J. Chordin is a modifier of Tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLos Genet 2009;5: e1000395.
  • 5. Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H. Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. Hum Mol Genet 2015; 15: 424-35. 6. Gao S, Li X, Amendt BA. Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. Curr Allergy Asthma Rep 2013;13:613-21. doi: 10.1007/s11882-013-0384-6.
  • 7. Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E et al. InternationalChromosome22q11.2Consortium.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/ DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 2011;32:1278-89.
  • 8. Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K. 22q11 deletion syndrome: current perspective. Appl Clin Genet 2015;18:123-32.

İzole TB delesyonu saptanan 22q11 delesyon sendromlu bir yenidoğan olgusu

Year 2020, , 385 - 387, 31.03.2020
https://doi.org/10.17826/cumj.629494

Abstract

-

References

  • 1. Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P et al. Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular caracterization with high-density SNP arrays. Eur J Med Gen 2009; 52: 321-327.
  • 2. Cabuk F, Karabulut HG, Tuncali T, Karademir S, Bozdayı M, Tükün A. TBX1 Gene mutation screening in patients with non-syndromic Fallot tetralogy. Turk J Pediatr 2007; 49: 61-68.
  • 3. Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS et al. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. Ultrasound Obstet Gynecol 2014; 43: 396-403.
  • 4. Choi M, Klingensmith J. Chordin is a modifier of Tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLos Genet 2009;5: e1000395.
  • 5. Funato N, Nakamura M, Richardson JA, Srivastava D, Yanagisawa H. Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia. Hum Mol Genet 2015; 15: 424-35. 6. Gao S, Li X, Amendt BA. Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. Curr Allergy Asthma Rep 2013;13:613-21. doi: 10.1007/s11882-013-0384-6.
  • 7. Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E et al. InternationalChromosome22q11.2Consortium.Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/ DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 2011;32:1278-89.
  • 8. Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K. 22q11 deletion syndrome: current perspective. Appl Clin Genet 2015;18:123-32.
There are 7 citations in total.

Details

Primary Language English
Subjects Paediatrics
Journal Section Letter to the Editor
Authors

Özden Turan 0000-0002-0611-117X

Zerrin Yılmaz Çelik This is me 0000-0001-9158-220X

Deniz Anuk Ince 0000-0002-4369-2110

Yunus Kasım Terzi This is me 0000-0001-5612-9696

Ayşe Ecevit This is me 0000-0002-2232-8117

Publication Date March 31, 2020
Acceptance Date October 25, 2019
Published in Issue Year 2020

Cite

MLA Turan, Özden et al. “A Newborn Case Diagnosed As ısolated TBX1 Deletion With 22q11 Deletion Syndrome”. Cukurova Medical Journal, vol. 45, no. 1, 2020, pp. 385-7, doi:10.17826/cumj.629494.