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Case Reports in Pediatrics
Volume 2013, Article ID 929861, 3 pages
http://dx.doi.org/10.1155/2013/929861
Case Report

Mosaic Trisomy 18 in a Five-Month-Old Infant

1Área de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Rua Jacinta Marto, 1169-045 Lisboa, Portugal
2Serviço de Genética, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE, Rua Jacinta Marto, 1169-045 Lisboa, Portugal

Received 28 April 2013; Accepted 8 May 2013

Academic Editors: C. F. Classen and B. Resch

Copyright © 2013 Ana Laura Fitas et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five-month-old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy. Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealed mosaic trisomy 18 with trisomy in 90% of peripheral lymphocytes and 17% of skin fibroblasts. This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.