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:: Volume 8, Issue 1 (3-2019) ::
Int J Med Invest 2019, 8(1): 68-73 Back to browse issues page
1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features
Ehsan Aghaei Moghadam *, Mohammad Reza Mirzaaghayan, Azin Ghamari, Sima Amini
Department of cardiology, children’s medical center, Tehran University of Medical Science, Tehran, Iran
Abstract:   (660 Views)
1q21.1 duplication is a rare copy number variant accompanied with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described an Iranian 6-month-old infant with coarctation of aorta, seizure and dismorphic features. The parents and the sibling of the patient, were physically and psychologically normal. Whole genome oligo array CGH revealed a deletion 314.2 Kb on 1q21.1q21.1 and duplication of 1.25 Mb on 1q21.1q21.2. Up to date, few evidence are available for the cardiac abnormalities of the patients with micro deletion and microduplication on 1q21 have also coarctation of aorta.
Keywords: 1q21.1 Deletion, 1q21.1 Duplication, Congenital Heart Disease, Coarctation Of Aorta
Full-Text [PDF 543 kb]   (125 Downloads)    
Type of Study: case report | Subject: General
1. 1. Hoffman JI, Kaplan S. The incidence of congenital heart disease. Journal of the American college of cardiology. 2002;39(12):1890-900. 2. Collins-Nakai R, McLaughlin P. How congenital heart disease originates in fetal life. Cardiology clinics. 2002;20(3):367-83. 3. Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, et al. Congenital heart defects in recurrent reciprocal 1q21. 1 deletion and duplication syndromes: rare association with pulmonary valve stenosis. European journal of medical genetics. 2013;56(3):144-9. 4. Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. The American Journal of Human Genetics. 2003;73(6):1261-70. 5. Brunet A, Armengol L, Heine D, Rosell J, García-Aragonés M, Gabau E, et al. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21. 1. BMC medical genetics. 2009;10(1):144. 6. FOR EPOIG, CHILDREN RRIJP. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. 2011;128(Suppl 5):S213. 7. Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, et al. Chromosome 1q21. 1 contiguous gene deletion is associated with congenital heart disease. Circulation research. 2004;94(11):1429-35. 8. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, et al. Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes. New England Journal of Medicine. 2008;359(16):1685-99. 9. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nature genetics. 2011;43(9):838. 10. Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, et al. Proximal microdeletions and microduplications of 1q21. 1 contribute to variable abnormal phenotypes. European Journal of Human Genetics. 2012;20(7):754. 11. Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nature genetics. 2009;41(8):931. 12. Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, et al. Phenotype-specific effect of chromosome 1q21. 1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human molecular genetics. 2011;21(7):1513-20. 13. Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, et al. A variant in the carboxyl-terminus of connexin 40 alters GAP Int J Med Invest 2019; vol 8; num 1; 68-73 http://www.intjmi.com junctions and increases risk for tetralogy of Fallot. European Journal of Human Genetics. 2013;21(1):69. 14. Oliveira SMJ, Ehtisham J, Redwood CS, Ostman-Smith I, Blair EM, Watkins H. Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis. Journal of molecular and cellular cardiology. 2003;35(10):1251-5. 15. Ganz T, Nemeth E. Hepcidin and disorders of iron metabolism. Annual review of medicine. 2011;62:347-60. 16. Menghsol SC, Harris RD, Ornvold K. Thrombocytopenia and absent radii, TAR syndrome: report of cerebellar dysgenesis and newly identified cardiac and renal anomalies. American Journal of Medical Genetics Part A. 2003;123(2):193-6.
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Moghadam E A, Mirzaaghayan M R, Ghamari A, Amini S. 1q21.1 Microdeletion and Microduplication in a Patient with Coarctation of Aorta, Seizure and Dismorphic Features. Int J Med Invest. 2019; 8 (1) :68-73
URL: http://intjmi.com/article-1-373-en.html

Volume 8, Issue 1 (3-2019) Back to browse issues page
International Journal of Medical Investigation
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