Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

<p>Abstract</p> <p>Background</p> <p>Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the categ...

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Main Authors: Papadopoulou Anna, Kokotas Haris, Merou Konstantina, Kitsos George, Sofocleus Christalena, Leze Eleni, Kefalas Konstantinos, Vetro Annalisa, Sarri Catherine, Manolakos Emmanouil, Attilakos Achilleas, Petersen Michael B, Kitsiou-Tzeli Sofia
Format: Article
Language:English
Published: BMC 2011-02-01
Series:Molecular Cytogenetics
Online Access:http://www.molecularcytogenetics.org/content/4/1/6