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01-11-2008 | Case Report

D-Transposition of the Great Arteries in a Case of Microduplication 22q11.2

Authors: Gitta Laitenberger, Birgit Donner, Juergen Gebauer, Thomas Hoehn

Published in: Pediatric Cardiology | Issue 6/2008

Abstract

The 22q11.2 deletion syndrome is one of the most frequent genetic syndromes, mainly characterized by cleft palate, facial dysmorphism, conotruncal heart malformations and immune deficiencies. Microduplication of the 22q11.2 region is a quite recently characterized genetic entity comprising a variable phenotype including some overlapping features with the 22q11.2 deletion syndrome. So far only few reports of patients with this microduplication and heart defects have been published. To our knowledge this is the first description of a patient with genetically confirmed duplication of the 22q11.2 region and d-transposition of the great arteries (d-TGA) as well as Ebstein’s anomaly.

Attenhofer Jost CH, Connolly HM, Edwards WD, Hayes D, Warnes CA, Danielson GK (2005) Ebstein’s anomaly—review of a multifaceted congenital cardiac condition. Swiss Med Wkly 135:269–281PubMed

DiGeorge A (1965) A new concept of the cellular basis of immunity. J Pediatr 67:9073

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, Thorland EC, Lorentz CP, Goldstein JL, Mc Donald MT, Smith WE, Simon-Fayard E, Alexander AA, Kulharya AS, Ketterling RP, Clark RD, Jalal SM (2003) Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic and molecular analysis of thirteen patients. Am J Hum Genet 73:1027–1040PubMedCrossRef

Ferencz C, Neill CA, Boughman JA, Rubin JD, Brenner JI, Perry LW (1989) Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr 114:79–86PubMedCrossRef

Hassed SJ, Hopcus-Niccum D, Zhang L, Li S, Mulvihill JJ (2004) A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 65:400–404PubMedCrossRef

Melchionda S, Digilio MC, Mingarelli R, Novelli G, Scambler P, Marino B, Dallapiccola B (1995) Transposition of the great arteries associated with deletion of chromosome 22q11.2. Am J Cardiol 75:95–98PubMedCrossRef

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: an european collaborative study. J Med Genet 34:798–804PubMedCrossRef

Shprintzen RJ, Goldberg RB, Lewin ML, et al. (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 15:56–62PubMed

Shprintzen RJ, Higgins AM, Antshel K, Fremot W, Roizen N, Kates W (2005) Velo-cardio-facial syndrome. Curr Opin Pediatr 17:725–730PubMedCrossRef

10.

Sparkes R, Chernos J, Dicke F (2005) Duplication of the 22q11.2 region associated with congenital cardiac disease. Cardiol Young 15:229–231PubMedCrossRef

11.

Swillen A, Devriendt K, Legius E, Prinzie P, Vogels A, Ghesquiere P, Fryns JP (1999) The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns 10:79–88PubMed

12.

Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, Elyas B, Lilley M, Bamforth S, Mc Dermid HE (2005) Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet. 76:865–876PubMedCrossRef

Title: D-Transposition of the Great Arteries in a Case of Microduplication 22q11.2
Authors: Gitta Laitenberger
Birgit Donner
Juergen Gebauer
Thomas Hoehn
Publication date: 01-11-2008
Publisher: Springer-Verlag
Published in: Pediatric Cardiology / Issue 6/2008
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-007-9150-7

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D-Transposition of the Great Arteries in a Case of Microduplication 22q11.2

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