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Rare combination in an infant patient: trisomy 7p and tetralogy of Fallot

Published online by Cambridge University Press:  12 April 2022

Osman Guvenc Open the ORCID record for Osman Guvenc [Opens in a new window] ,
Murat Saygi Open the ORCID record for Murat Saygi [Opens in a new window]  and
Tugba A. Duman Open the ORCID record for Tugba A. Duman [Opens in a new window]
Osman Guvenc*
Affiliation:
Acıbadem University, Medical Faculty, Department of Pediatric Cardiology, Istanbul, Turkey
Murat Saygi
Affiliation:
Acıbadem University, Medical Faculty, Department of Pediatric Cardiology, Istanbul, Turkey
Tugba A. Duman
Affiliation:
Haseki Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey
*
Author for correspondence: Osman Güvenç, M.D., Merkez Halkalı Mahallesi, Turgut Özal Bulvarı, No:16, Küçükçekmece İstanbul, Turkey. Tel: 0505 5013646 7 02124044444-4286. E-mail: [email protected]
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Abstract

This case report presents an infant patient with the association of trisomy 7p and tetralogy of Fallot(ToF). Patients diagnosed with trisomy 7p should certainly be scheduled for an echocardiographic exam and be scanned for any CHD that may accompany it. The CHD that most frequently accompany this syndrome include atrial septal defect, ventricular septal defect, and patent ductus arteriosis. Yet, it should be known that ToF may also be present, albeit rarely.

Keywords

Trisomy 7pTetralogy of FallotInfant
Type
Brief Report
Information
Cardiology in the Young , Volume 32 , Issue 12 , December 2022 , pp. 2038 - 2040
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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References

Wilde, JR, Teele, RL, Aftimos, S. Greater trochanteric stippling in trisomy 7p. Pediatr Radiol 2006; 36: 863–865.CrossRefGoogle ScholarPubMed
Schmidt, B1, ten Cate, FUdink, Weiss, M, Koehler, U. Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7pin siblings as a result of reciprocal unbalanced malsegregation--and review of the literature. Eur J Pediatr 2012, 171:1047–1053.CrossRefGoogle Scholar
Ozgun, MT, Batukan, C, Asbug, M, Akgun, H, Caglayan, O, Dundar, M. Prenatal diagnosis of a fetus with partial trisomy 7p. Fetal Diagn Ther 2007; 22: 229–232.CrossRefGoogle ScholarPubMed
van der Ven, JPG, van den Bosch, E, Bogers, AJCC, Helbing, WA. Current outcomes and treatment of tetralogy of fallot. F1000Res 2019; 8: F1000 Faculty Rev-1530. doi: 10.12688/f1000research.17174.1.CrossRefGoogle ScholarPubMed
Athanasiadis, DI, Mylonas, KS, Kasparian, K, et al. Surgical outcomes in syndromic tetralogy of fallot: A. Systematic Review and Evidence Quality Assessment. Pediatr Cardiol 2019; 40: 1105–1112.Google Scholar
Arens, YH, Toutain, A, Engelen, JJ, et al. Trisomy 7p: report of 2 patients and literature review. Genet Couns 2000; 11: 347–354.Google ScholarPubMed
Kozma, C, Haddad, BR, Meck, JM. Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications. Am J Med Genet 2000; 91: 286–290.3.0.CO;2-2>CrossRefGoogle ScholarPubMed
Papadopoulou, E, Sifakis, S, Sarri, C, et al. A report of pure 7p duplication syndrome and review of the literature. Am J Med Genet A 2006; 140: 2802–2806.CrossRefGoogle ScholarPubMed
AlFardan, J, Brown, K, Gessner, J, Lunt, B, Scharer, G. Small duplication of chromosome (7)(p22.1p22.2) and consideration of a dup 7p syndrome critical region. Clin Dysmorphol 2011; 20: 217–221.CrossRefGoogle Scholar
Lurie, IW, Schwartz, MF, Schwartz, S, Cohen, MM. Trisomy 7p resulting from isochromosome formation and whole-arm translocation. Am J Med Genet 1995; 55: 62–66.CrossRefGoogle ScholarPubMed