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

Year 2020, Volume: 45 Issue: 1, 385 - 387, 31.03.2020

Özden Turan Zerrin Yılmaz Çelik Deniz Anuk Ince Yunus Kasım Terzi Ayşe Ecevit

https://doi.org/10.17826/cumj.629494

Abstract

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Keywords

Newborn, TBX1 deletion

İzole TB delesyonu saptanan 22q11 delesyon sendromlu bir yenidoğan olgusu

Abstract

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Keywords

Newborn, TBX1 deletion

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.