Hostname: page-component-586b7cd67f-g8jcs Total loading time: 0 Render date: 2024-11-27T02:23:00.974Z Has data issue: false hasContentIssue false
  • English
  • Français

Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)

Part of: Basic Science

Published online by Cambridge University Press:  26 December 2018

Utkarsh Kohli Open the ORCID record for Utkarsh Kohli [Opens in a new window]
Utkarsh Kohli*
Affiliation:
Department of Pediatric Cardiology, Division of Pediatrics, St. John Hospital and Medical Center, Detroit, MI, USA Assistant Professor of Pediatrics, Division of Pediatric Cardiology, Department of Pediatrics, University of Chicago School of Medicine, Chicago, IL, USA
*
Author for correspondence: U. Kohli, MD, Assistant Professor of Pediatrics, Department of Pediatric Cardiology, Division of Pediatrics, University of Chicago, 5481S Maryland Avenue, RM-C104E, MC 4051, Chicago, IL 60637, USA. Tel: 773-702-6172; Fax: 773-702-2319; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Kleefstra syndrome (chromosome 9q34.3 deletion) is a rare genetic disorder with less than 110 patients reported till date. We report a 4-month-old Caucasian girl with Kleefstra syndrome and Shone’s complex, an association which has not been previously reported. Surgical planning for patients with Kleefstra syndrome and complex CHD can pose challenges due to an uncertain natural history and a risk of post-operative pulmonary hypertension.

Keywords

Chromosome 9q34.3 deletionShone’s complexKleefstra syndrome
Type
Brief Report
Information
Cardiology in the Young , Volume 29 , Issue 2 , February 2019 , pp. 249 - 251
Copyright
© Cambridge University Press 2018 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

Cite this article: Kohli U. (2018) Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome). Cardiology in the Young page 249 of 251. doi: 10.1017/S104795111800210X

References

1. Campbell, CL, Collins, RTII, Zarate, YA. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. Birth Defects Res A Clin Mol Teratol 2014; 100: 985–990.Google Scholar
2. Schimmenti, LA, Berry, SA, Tuchman, M, Hirsch, B. Infant with multiple congenital anomalies and deletion (9) (q34.3). Am J Med Genet 1994; 51: 140–142.Google Scholar
3. Ayyash, H, Mueller, R, Maltby, E, Horsfield, P, Telford, N, Tyler, P. A report of a child with a deletion (9)(q34.3): a recognisable phenotype? J Med Genet 1997; 34: 610–612.Google Scholar
4. Neas, KR, Smith, JM, Chia, N, et al. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. Am J Med Genet A 2005; 132A: 425–430.Google Scholar
5. Cormier-Daire, V, Molinari, F, Rio, M, et al. Cryptic terminal deletion of chromosome 9q34: A novel cause of syndromic obesity in childhood? J Med Genet 2003; 40: 300–303.Google Scholar
6. Iwakoshi, M, Okamoto, N, Harada, N, et al. 9q34.3 deletion syndrome in three unrelated children. Am J Med Genet A 2004; 126A: 278–283.Google Scholar
7. Penacho, V, Galán, F, Martín-Bayón, TA, et al. Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion. Cytogenet Genome Res 2014; 144: 275–279.Google Scholar
8. Guterman, S, Hervé, B, Rivière, J, Fauvert, D, Clement, P, Vialard, F. First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): a case report and literature review. J Obstet Gynaecol Res 2018; 44: 570–575.Google Scholar
9. Okur, V, Nees, S, Chung, WK, Krishnan, U. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Am J Med Genet A 2018: https://doi.org/10.1002/ajmg.a.38852.Google Scholar
10. Noruzinia, M, Ahmadvand, M, Bashti, O, Salehi Chaleshtori, AR. Kleefstra syndrome: the first case report from Iran. Acta Med Iran 2017; 55: 650–654.Google Scholar
11. Stewart, DR, Kleefstra, T. The chromosome 9q subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet 2007; 145: 383–392.Google Scholar
12. Willemsen, MH, Vulto-van Silfhout, AT, Nillesen, WM, et al. Update on Kleefstra syndrome. Mol Syndromol 2012; 2: 202–212.Google Scholar
13. Verhoeven, VM, Egger, JI, Vermeulen, K, van de Warrenburg, BP, Kleefstra, T. Kleefstra syndrome in three adult patients: further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course. Am J Med Genet A 2011; 155A: 2409–2415.Google Scholar