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

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

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...

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Bibliographic Details
Main Authors: Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin, Daniela Francesca Giachino, Alfredo Brusco
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2014/470830
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