TY  - JOUR
T1  - A newborn case diagnosed as ısolated TBX1 deletion with 22q11 deletion syndrome
TT  - İzole TB delesyonu saptanan 22q11 delesyon sendromlu bir yenidoğan olgusu
AU  - Turan, Özden
AU  - Yılmaz Çelik, Zerrin
AU  - Anuk Ince, Deniz
AU  - Terzi, Yunus Kasım
AU  - Ecevit, Ayşe
PY  - 2020
DA  - March
Y2  - 2019
DO  - 10.17826/cumj.629494
JF  - Cukurova Medical Journal
JO  - Cukurova Med J
PB  - Cukurova University
WT  - DergiPark
SN  - 2602-3032
SP  - 385
EP  - 387
VL  - 45
IS  - 1
LA  - en
AB  - -
KW  - Newborn
KW  - TBX1 deletion
N2  - -
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 8.	Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K. 22q11 deletion syndrome: current perspective. Appl Clin Genet 2015;18:123-32.
UR  - https://doi.org/10.17826/cumj.629494
L1  - https://dergipark.org.tr/en/download/article-file/943720
ER  -