Hostname: page-component-78c5997874-t5tsf Total loading time: 0 Render date: 2024-11-10T07:38:00.143Z Has data issue: false hasContentIssue false
  • English
  • Français

Complex congenital cardiac disease in a patient with partial trisomy for the long arms of chromosomes 11 and 22

Published online by Cambridge University Press:  24 May 2005

Claudia Chetcuti-Ganado  and
Victor Grech
Claudia Chetcuti-Ganado
Affiliation:
Paediatric Department, St Luke's Hospital, Guardamangia, Malta
Victor Grech
Affiliation:
Paediatric Department, St Luke's Hospital, Guardamangia, Malta
Get access Rights & Permissions [Opens in a new window]

Abstract

Abnormalities of chromosomes 11 and 22 are associated with congenital cardiac disease and/or various syndromes. We present a patient with partial trisomy for the long arms of chromosomes 11 and 22, the result of a maternal balanced reciprocal translocation between these two chromosomes. Our patient was dysmorphic and had coarctation of the aorta, an atrioventricular septal defect with common atrioventricular junction and exclusively atrial shunting, patency of the arterial duct, supracardiac totally anomalous pulmonary venous connection, a single kidney, and tracheobronchomalacia. This patient is unusual in having extensive left-sided cardiac involvement, a feature not usually found in this condition.

Keywords

Chromosomes, human, pair 11aortic coarctationheart septal defectspatent arterial duct
Type
Brief Report
Information
Cardiology in the Young , Volume 13 , Issue 5 , October 2003 , pp. 481 - 483
Copyright
© 2003 Cambridge University Press

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.)

References

Wallerstein R, Desposito F, Aviv H, Schenk M, Wallerstein DF. Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease. Cleft Palate Craniofac J 1992; 29: 77–79.Google Scholar
Iselius L, Lindsten J, Aurias A, et al. The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet 1983; 64: 343–355.Google Scholar
Freedom RM, Gerald PS. Congenital cardiac disease and the “cat eye” syndrome. Am J Dis Child 1973; 126: 16–18.Google Scholar
Clang DR, LaBaere RJ II. Jacobsen syndrome: chromosome deletion at 11q23. J Am Osteopath Assoc 1998; 98: 551–554.Google Scholar
de Lonlay-Debeney P, de Blois MC, Bonnet D, et al. Ebstein anomaly associated with rearrangements of chromosomal region 11q. Am J Med Genet 1998; 80: 157–159.Google Scholar
Iida A, Emi M, Matsuoka R, et al. Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left–right axis malformation. Hum Genet 2000; 106: 277–287.Google Scholar
Phillips HM, Renforth GL, Spalluto C, et al. Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis. Genomics 2002; 79: 475–478.Google Scholar
Hustinx R, Verloes A, Grattagliano B, et al. Monosomy 11q: report of two familial cases and review of the literature. Am J Med Genet 1993; 47: 312–317.Google Scholar
Menendez I, Rivera H, Morales E, Juan J, Jimenez M. 11q distal trisomy due to a familial 11;18 translocation. Bol Med Hosp Infant Mex 1990; 47: 792–794.Google Scholar
Guenthard J, Buehler E, Jaeggi E, Wyler F. Possible genes for left heart formation on 11q23.3. Ann Genet 1994; 37: 143–146.Google Scholar