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Interstitial 5p15.2-p13.3 deletion in association with situs inversus, dextrocardia, L-loop of the ventricles, and transposition of great arteries in a newborn infant

Published online by Cambridge University Press:  23 July 2019

Shabih Manzar*
Affiliation:
Department of Pediatrics, College of Medicine, Louisiana State University of Health Sciences, Shreveport, LA, USA
Nitin Walyat
Affiliation:
Department of Pediatrics, College of Medicine, Louisiana State University of Health Sciences, Shreveport, LA, USA
Ryan C. Jones
Affiliation:
Department of Pediatrics, College of Medicine, Louisiana State University of Health Sciences, Shreveport, LA, USA
*
Author for correspondence: S. Manzar, Department of Pediatrics, College of Medicine, Louisiana State University of Health Sciences, 1501 Kings Highway, Shreveport, LA 71130, USA. Tel: +1 318-626-4374; Fax: +1 318-698-4305; E-mail: smanza@lsuhsc.edu

Abstract

We report a rare association of interstitial deletion of 5p15.2-p13.3 with situs inversus, dextrocardia, L-loop of the ventricles, and transposition of great arteries: [I, L, L] Transposition of Great Arteries. We did not find such an association reported in the medical literature.

Type
Brief Report
Copyright
© Cambridge University Press 2019 

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References

Lejeune, J, Lafourcade, J, Berger, R, et al. 3 cases of partial deletion of the short arm of a 5 chromosome. C R Hebd Seances Acad Sci 1963; 257: 30983102.Google ScholarPubMed
Nguyen, JM, Qualmann, KJ, Okashah, R, Reilly, A, Alexeyev, MF, Campbell, DJ. 5p deletions: current knowledge and future directions. Am J Med Genet C Semin Med Genet 2015; 169: 224238. doi: 10.1002/ajmg.c.31444 CrossRefGoogle ScholarPubMed
Mainardi, PC, Perfumo, C, Cali, A, et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001; 38: 151158.CrossRefGoogle ScholarPubMed
Mainardi, PC, Pastore, G, Castronovo, C, et al. The natural history of cri du chat syndrome. A report from the italian register. Eur J Med Genet 2006; 49: 363383.CrossRefGoogle ScholarPubMed
Balta, B, Erdogan, M. Ergul, AB, Sahin, Y, Ozcan, A. Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities. Am J Med Genet A 2017; 173: 27872802. doi: 10.1002/ajmg.a.38386 CrossRefGoogle Scholar
Kondoh, T, Shimokawa, O, Harada, N, et al. Genotype-phenotype correlation of 5p–syndrome: pitfall of diagnosis. J Hum Genet 2005; 50: 2629.10.1007/s10038-004-0213-9CrossRefGoogle Scholar
Hills, C, Moller, JH, Finkelstein, M, Lohr, J, Schimmenti, L.Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Pediatrics 2006; 117: e924e927 10.1542/peds.2005-1012CrossRefGoogle ScholarPubMed
Unolt, M, Putotto, C, Silvestri, LM, et al. Transposition of great arteries: new insights into the pathogenesis. Front Pediatr 2013; 1: 11. doi: 10.3389/fped.2013.00011 CrossRefGoogle ScholarPubMed
Bengtsson, U, Mcmahon, J, Quarrell, O, et al. Phenotypically normal carriers of unbalanced terminal deletions of 5p transmit the deletions to offspring who display growth and developmental delay. Am J Hum Genet 1990; 47: A818.Google Scholar