Literature DB >> 11998920

Familial 22q11.2 deletion: an infant with interrupted aortic arch and DiGeorge syndrome delivered from by a mother with tetralogy of Fallot.

Tadahiko Ito, Tadashi Okubo, Hiroshi Sato.   

Abstract

When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease.

Entities:  

Mesh：

Year:  2002        PMID： 11998920     DOI： 10.1007/s00431-001-0890-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  3 in total

1.  Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

Authors:  J Burn; A Takao; D Wilson; I Cross; K Momma; R Wadey; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

2.  Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Authors:  D A Driscoll; J Salvin; B Sellinger; M L Budarf; D M McDonald-McGinn; E H Zackai; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

3.  DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

Authors:  D I Wilson; I E Cross; J A Goodship; S Coulthard; A H Carey; P J Scambler; H H Bain; A S Hunter; P E Carter; J Burn
Journal:  Br Heart J       Date:  1991-10
  3 in total
  2 in total

Review 1.  Transcription factor pathways and congenital heart disease.

Authors:  David J McCulley; Brian L Black
Journal:  Curr Top Dev Biol       Date:  2012       Impact factor: 4.897

2.  The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population.

Authors:  Yan Shi; Yongqing Li; Yuequn Wang; Jian Zhuang; Heng Wang; Min Hu; Xiaoyang Mo; Shusheng Yue; Yu Chen; Xiongwei Fan; Jimei Chen; Wanwan Cai; Xiaolan Zhu; Yongqi Wan; Ying Zhong; Xiangli Ye; Fang Li; Zuoqiong Zhou; Guo Dai; Rong Luo; Karen Ocorr; Zhigang Jiang; Xiaoping Li; Ping Zhu; Xiushan Wu; Wuzhou Yuan
Journal:  Genet Test Mol Biomarkers       Date:  2019-08-06
  2 in total

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