Literature DB >> 8660052

Chromosome 22q11 microdeletions in tetralogy of Fallot.

A H Trainer1, N Morrison, A Dunlop, N Wilson, J Tolmie.   

Abstract

Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22q11 FISH studies should therefore be performed on all patients with tetralogy of Fallot.

Entities:  

Mesh：

Year:  1996        PMID： 8660052      PMCID： PMC1511583          DOI： 10.1136/adc.74.1.62

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  A family study of Fallot's tetralogy.

Authors:  A R Boon; M B Farmer; D F Roberts
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

2.  22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Authors:  F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

3.  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

4.  DiGeorge syndrome: part of CATCH 22.

Authors:  D I Wilson; J Burn; P Scambler; J Goodship
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

5.  Tetralogy of Fallot. The spectrum of severity in a regional study, 1981-1985.

Authors:  S S Karr; J I Brenner; C Loffredo; C A Neill; J D Rubin
Journal:  Am J Dis Child       Date:  1992-01

6.  Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Authors:  E Goldmuntz; D Driscoll; M L Budarf; E H Zackai; D M McDonald-McGinn; J A Biegel; B S Emanuel
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318
  6 in total
  11 in total

1.  Towards earlier diagnosis of 22q11 deletions.

Authors:  E S Tobias; N Morrison; M L Whiteford; J L Tolmie
Journal:  Arch Dis Child       Date:  1999-12       Impact factor: 3.791

2.  Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.

Authors:  F L Raymond; J M Simpson; C M Mackie; G K Sharland
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

3.  Ductal stent implantation in tetralogy of fallot with aortic arch abnormality.

Authors:  Hasan Tahsin Tola; Yakup Ergul; Murat Saygi; Isa Ozyilmaz; Alper Guzeltas; Ender Odemis
Journal:  Tex Heart Inst J       Date:  2015-06-01

4.  22q11 deletion: a cause of asymmetric crying facies.

Authors:  H S Stewart; J Clayton-Smith
Journal:  Arch Dis Child       Date:  1996-07       Impact factor: 3.791

5.  22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.

Authors:  Laura Mercer-Rosa; Okan U Elci; Nelangi M Pinto; Ronn E Tanel; Elizabeth Goldmuntz
Journal:  Pediatr Cardiol       Date:  2018-03-08       Impact factor: 1.655

6.  22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.

Authors:  Laura Mercer-Rosa; Nelangi Pinto; Wei Yang; Ronn Tanel; Elizabeth Goldmuntz
Journal:  J Thorac Cardiovasc Surg       Date:  2013-01-11       Impact factor: 5.209

7.  Chromosome 22q11 deletion in patients with truncus arteriosus.

Authors:  D B McElhinney; D A Driscoll; B S Emanuel; E Goldmuntz
Journal:  Pediatr Cardiol       Date:  2003-09-04       Impact factor: 1.655

8.  Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes?

Authors:  Ralf Rauch; Anita Rauch; Andreas Koch; Stefan Zink; Renate Kaulitz; Monika Girisch; Helmut Singer; Michael Hofbeck
Journal:  Eur J Pediatr       Date:  2004-08-06       Impact factor: 3.183

9.  Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.

Authors:  Wai Lun Alan Fung; Eva W C Chow; Gary D Webb; Michael A Gatzoulis; Anne S Bassett
Journal:  Int J Cardiol       Date:  2008-01-11       Impact factor: 4.164

10.  Comparison of Postoperative, In-Hospital Outcomes After Complete Repair of Tetralogy of Fallot Between 22q11.2 Deletion Syndrome and Trisomy 21.

Authors:  Timothy E Nissen; Isabella Zaniletti; R Thomas Collins; Lawrence E Greiten; Parthak Prodhan; Paul M Seib; Elijah H Bolin
Journal:  Pediatr Cardiol       Date:  2021-07-30       Impact factor: 1.655
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.