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Case Reports in Genetics
Volume 2013, Article ID 978087, 6 pages
http://dx.doi.org/10.1155/2013/978087
Case Report

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

1Department of Pediatrics, IRCCS Policlinico San Matteo, University of Pavia, Piazzale Golgi 19, 27100 Pavia, Italy
2Department of Molecular Medicine, University of Pavia, Via Forlanini 6, 27100 Pavia, Italy
3IRCCS C. Mondino National Neurological Institute Foundation, Via Mondino 2, 27100 Pavia, Italy

Received 6 June 2013; Accepted 11 July 2013

Academic Editors: D. J. Bunyan, C.-W. Cheng, P. Morrison, and M. Velinov

Copyright © 2013 Mariangela Cisternino 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 report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). To our knowledge, this is the second reported case of precocious puberty associated with 9p distal deletion. A third case associates precocious puberty with a more proximal 9p deletion del(9)(p12p13,3). In our case, more than 40 genes were encompassed in the deleted region, among which, DMRT1 which is gonad-specific and has a sexually dimorphic expression pattern and ERMP1 which is required in rats for the organization of somatic cells and oocytes into discrete follicular structures. Although we cannot exclude that precocious puberty in our del(9p) patient is a coincidental finding, the report of the other two patients with 9p deletions and precocious puberty indeed suggests a causative relationship.