Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions

    Pelin Özyavuz Çubuk, Ece Keskin, Lamiya Mardan Hacızade, Tuğba Akın Duman, Fatma Nihal Öztürk, Ömer Faruk Karaçorlu, Hasan Taşlıdere, Mehmet Buğrahan Düz
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    Studysummary This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
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