Literature DB >> 10496456

Deletion 22q11 in patients with interrupted aortic arch.

B Marino1, M C Digilio, M Persiani, R Di Donato, A Toscano, A Giannotti, B Dallapiccola.   

Abstract

In our series of 27 children with various types of interruption of the aortic arch (IAA), deletion 22q11 is prevalent in patients with simple IAA type B, and is absent in patients with IAA type A and in those with associated additional major cardiac defects. Anomalies of the infundibular septum should be considered a characteristic aspect of children with IAA and deletion 22q11.

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Year:  1999        PMID： 10496456     DOI： 10.1016/s0002-9149(99)00297-0

Source DB:  PubMed          Journal:  Am J Cardiol        ISSN： 0002-9149            Impact factor:   2.778


  12 in total

1.  Genetic predisposition to ventricular septal defect in Down syndrome.

Authors:  M C Digilio; B Marino
Journal:  Hum Genet       Date:  2001-10       Impact factor: 4.132

2.  Complete aortic arch obstruction: interruption or aortic coarctation?

Authors:  J W J Vriend; J Lam; B J M Mulder
Journal:  Int J Cardiovasc Imaging       Date:  2004-10       Impact factor: 2.357

3.  Chromosome 22q11 deletions in patients with conotruncal heart defects.

Authors:  A Khositseth; C Tocharoentanaphol; P Khowsathit; N Ruangdaraganon
Journal:  Pediatr Cardiol       Date:  2005 Sep-Oct       Impact factor: 1.655

4.  A rare association of interrupted aortic arch type C and microdeletion 22q11.2.

Authors:  Goran Cuturilo; Danijela Drakulic; Milena Stevanovic; Ida Jovanovic; Milan Djukic; Slobodanka Miletic-Grkovic; Marina Atanaskovic-Markovic
Journal:  Eur J Pediatr       Date:  2007-11-27       Impact factor: 3.183

Review 5.  Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Authors:  Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino
Journal:  Am J Med Genet A       Date:  2018-04-16       Impact factor: 2.802

Review 6.  22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.

Authors:  Carolina Putotto; Flaminia Pugnaloni; Marta Unolt; Stella Maiolo; Matteo Trezzi; Maria Cristina Digilio; Annapaola Cirillo; Giuseppe Limongelli; Bruno Marino; Giulio Calcagni; Paolo Versacci
Journal:  Children (Basel)       Date:  2022-05-25

7.  22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch.

Authors:  Michael L O'Byrne; Wei Yang; Laura Mercer-Rosa; Aimee S Parnell; Matthew E Oster; Yosef Levenbrown; Ronn E Tanel; Elizabeth Goldmuntz
Journal:  J Thorac Cardiovasc Surg       Date:  2014-02-10       Impact factor: 5.209

8.  Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).

Authors:  Mc Digilio; B Marino; R Capolino; B Dallapiccola
Journal:  Images Paediatr Cardiol       Date:  2005-04

9.  Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.

Authors:  Xiaohui Gong; Xi Wu; Xiaojing Ma; Dandan Wu; Ting Zhang; Li He; Shengying Qin; Xiaotian Li
Journal:  PLoS One       Date:  2013-10-02       Impact factor: 3.240

10.  Isolated interrupted aortic arch: unexpected diagnosis in a 63-year-old male.

Authors:  Hassan Javadzadegan; Jahan Porhomayon; Alireza Sadighi; Mehrdad Yavarikia; Nader Nader
Journal:  Case Rep Crit Care       Date:  2011-06-21
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