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Case Reports in Genetics
Volume 2016, Article ID 2861653, 5 pages
Case Report

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

1Department of Pediatrics, Horacio Oduber Hospital, Oranjestad, Aruba
2Department of Genetics, Wilhelmina Children’s Hospital, UMC Utrecht, 3584 EA Utrecht, Netherlands

Received 12 November 2015; Accepted 6 January 2016

Academic Editor: Philip D. Cotter

Copyright © 2016 Shirley Lo-A-Njoe 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.


Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies.