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Case Reports in Genetics
Volume 2014, Article ID 470830, 5 pages
Case Report

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

1Medical Genetics Unit, “San Luigi Gonzaga” University Hospital, University of Torino, Regione Gonzole 10, 10143 Orbassano, Italy
2Department of Clinical & Biological Sciences, University of Torino, 10143 Orbassano, Italy
3Department of Medical Sciences, University of Torino, Via Santena 19, 10126 Torino, Italy
4Medical Genetics, “Città della Salute e della Scienza” University Hospital, 10126 Torino, Italy

Received 4 August 2014; Accepted 2 November 2014; Published 23 November 2014

Academic Editor: Evica Rajcan-Separovic

Copyright © 2014 Giorgia Mandrile 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.


A recently described genetic disorder has been associated with 13q12.3 microdeletion spanning three genes, namely, KATNAL1, LINC00426, and HMGB1. Here, we report a new case with similar clinical features that we have followed from birth to 5 years old. The child carried a complex rearrangement with a double translocation: 46,XX,t(7;13)(p15;q14),t(11;15)(q23;q22). Array-CGH identified a de novo microdeletion at 13q12.2q13.1 spanning 3–3.4 Mb and overlapping 13q12.3 critical region. Clinical features resembling those reported in the literature confirm the existence of a distinct 13q12.3 microdeletion syndrome and provide further evidence that is useful to characterize its phenotypic expression during the 5 years of development.