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Chromosome 22q11.21 microduplication in association with hypoplastic left heart syndrome with hypoplastic pulmonary arteries

Published online by Cambridge University Press:  22 January 2014

Colin J. McMahon ,
Conall T. Morgan  and
Marie T. Greally
Colin J. McMahon*
Affiliation:
Department of Paediatric Cardiology, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
Conall T. Morgan
Affiliation:
Department of Paediatric Cardiology, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
Marie T. Greally
Affiliation:
National Centre for Medical Genetics, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland
*
Correspondence to: Dr C. J. McMahon, FRCPI, Department of Paediatric Cardiology, Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland. Tel: +01 4096160; Fax: +01 4096181; E-mail: cmcmahon992004@yahoo.com
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Abstract

We describe a case of a baby girl born with hypoplastic left heart syndrome consisting of mitral atresia, aortic atresia, hypoplastic ascending aorta, and left ventricle. The pulmonary arteries were hypoplastic, measuring 3 mm. Fluorescence in situ hybridisation analysis demonstrated a microduplication of chromosome 22q11.2. Subsequent array comparative genomic hybridisation showed a gain of 2.3 Mb in one copy of chromosome 22q at band 22q11.21. The proband underwent a successful Norwood procedure with Sano shunt and subsequently underwent bi-directional Glenn shunt and Fontan procedure. This report highlights the association between hypoplastic left heart syndrome with hypoplastic pulmonary arteries and chromosome 22q11.21 microduplication.

Keywords

Hypoplastic left heart syndromemitral atresiaaortic atresiachromosome 22q11.2 microduplicationfluorescence in situ hybridisationarray comparative genomic hybridisation
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 1 , January 2015 , pp. 167 - 170
Copyright
© Cambridge University Press 2014 

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References

1. Driscoll, DA, Budarf, ML, Emanuel, BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992; 50: 924–933.Google ScholarPubMed
2. McDonald-McGinn, DM, Kirschner, R, Goldmuntz, E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999; 10: 11–24.Google Scholar
3. Yobb, TM, Somerville, MJ, Willatt, L, et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005; 76: 865–876.CrossRefGoogle ScholarPubMed
4. Edelmann, L, Pandita, RK, Spiteri, E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8: 1157–1167.Google Scholar
5. Ensenauer, RE, Adeyinka, A, Flynn, HC, et al. Microduplication of 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003; 73: 1027–1040.Google Scholar
6. Portnoï, MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 2009; 52: 88–93.CrossRefGoogle ScholarPubMed
7. Laitenberger, G, Donner, B, Gebauer, J, Hoehn, T. D-transposition of the great arteries in a case of microduplication 22q11.2. Pediatr Cardiol 2008; 29: 1104–1106.Google Scholar
8. de La Rochebrochard, C, Joly-Helas, G, Goldenberg, A, et al. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet 2006; 140: 1608–1613.CrossRefGoogle ScholarPubMed
9. Hu, P, Ji, X, Yang, C, et al. 22q11.2 microduplication in a family with recurrent fetal congenital heart disease. Eur J Med Genet 2011; 54: e433–e436.Google Scholar
10. Weisfeld-Adams, JD, Edelmann, L, Gadi, IK, Mehta, L. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1. Eur J Med Genet 2012; 55: 732–736.CrossRefGoogle Scholar