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Case Reports in Pediatrics
Volume 2015, Article ID 263253, 3 pages
http://dx.doi.org/10.1155/2015/263253
Case Report

45,X/47,XXX Mosaicism and Short Stature

1Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
2Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA

Received 14 March 2015; Accepted 21 May 2015

Academic Editor: Ozgur Cogulu

Copyright © 2015 Erica Everest 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

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.