World Journal of Pediatrics

, Volume 9, Issue 2, pp 179–181 | Cite as

Trisomy 18 mosaicism: report of two cases

  • Siddharth BankaEmail author
  • Kay Metcalfe
  • Jill Clayton-Smith
Case report



Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease.


Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect. Karyotyping of her lymphocytes showed complete trisomy 18. Due to her milder phenotypes, skin fibroblasts were karyotyped. Patient 2 was a boy with biventricular hypertrophic cardiomyopathy, patent ductus arteriosus, ventricular and atrial septal defects and significant feeding problems.


Karyotyping of the skin and lymphocytes in patients 1 and 2 respectively revealed trisomy 18 mosaicism. Both children had only mild learning problems and were generally healthy with satisfactory growth. Patient 1 illustrates the possibility of significant discrepancy between the levels of trisomic cells in skin fibroblasts and lymphocytes leading to misdiagnosis. This finding has significant implications in medical management and counselling. Hypertrophic cardiomyopathy in patient 2 is recognized as a novel finding for this condition.


There is the possibility of good outcome for patients with mosaic trisomy 18, even in the presence of multiple congenital anomalies.

Key words

horse-shoe shaped kidneys hypertrophic cardiomyopathy mosaicism trisomy 18 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolf OH. A new trisomic syndrome. Lancet 1960;1:787–790.PubMedCrossRefGoogle Scholar
  2. 2.
    Gorlin RJ, Cohen HJ, Hennekam RCM. Trisomy 18 (Edwards) syndrome. In: Gorlin RJ, Cohen HJ, Hennekam RCM, eds. Syndromes of the Head and Neck. New York: Oxford University Press, 2001:45–48.Google Scholar
  3. 3.
    Tucker ME, Garringer HJ, Weaver DD. Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. Am J Med Genet A 2007;143:505–517.PubMedGoogle Scholar
  4. 4.
    Hook EB, Yunis JJ. Congenital asymmetry associated with trisomy 18 mosaicism. Am J Dis Child 1965;110:551–555.PubMedGoogle Scholar
  5. 5.
    Wolf U, Reinwein H, Schroter R. Report on trisomies 18 and a trisomy 18 mosaicism. Humangenetik 1965;1:232–245.PubMedCrossRefGoogle Scholar
  6. 6.
    Sarigol SS, Rogers DG. Trisomy 18 mosaicism in a thirteen-year-old girl with normal intelligence, delayed pubertal development, and growth failure. Am J Med Genet 1994;50:94–95.PubMedCrossRefGoogle Scholar
  7. 7.
    Limongelli G, Pacileo G, Melis D, Calabro’ P, Digilio MC, Sarkozy A, et al. Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. Am J Med Genet A 2008;146:327–329.PubMedGoogle Scholar
  8. 8.
    Bass HN, Fox M, Wulfsberg E, Sparkes RS, Crandall BF. Trisomy 18 mosaicism: clues to the diagnosis. Clin Genet 1982;22:327–330.PubMedCrossRefGoogle Scholar

Copyright information

© Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Siddharth Banka
    • 1
    • 2
    Email author
  • Kay Metcalfe
    • 1
  • Jill Clayton-Smith
    • 1
  1. 1.Academic Unit of Medical GeneticsSt. Mary’s HospitalManchesterUK
  2. 2.Department of Genetic MedicineSt. Mary’s HospitalManchesterUK

Personalised recommendations