Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report

Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report

Abstract Background Tourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics with onset during childhood or adolescence. Most TS patients present with additional comorbidities, typically attention deficit hyperactivity d...

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Bibliographic Details
Main Authors: Stefania Maccarini, Annamaria Cipani, Valeria Bertini, Jelena Skripac, Alessandro Salvi, Giuseppe Borsani, Eleonora Marchina
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Molecular Cytogenetics
Subjects:
Xq28 trisomy
CNVs
Array-CGH
PAR2
Gilles de la Tourette syndrome
Intellectual disability
Online Access:http://link.springer.com/article/10.1186/s13039-020-00493-3

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