© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

Chromosome Microdeletion and Duplication

• 3q13 deletion syndrome (GSK3)
• 4q15 deletion syndrome
• 6q23.2 duplication (Taar2)
• 7q22 delection syndrome
• 7q36 duplication (SHH)
• 9q22.3 deletion syndrome (PTCH)
• 10p12.3 deletion syndrome (PLXDC2)
• 10q23 deletion syndrome
• 10q24 deletion syndrome (SUFU)
• 11p15.5 duplication
• 12q24.31 duplication (P2RX7)
• 13q13 deletion syndrome
• 13q14 deletion syndrome
• 14q13.1 deletion syndrome (NPAS3)
• 15q duplication
• 15q11 duplication
• 15q24 deletion syndrome (IGF1R)
• 19p13.2 duplication
• Xq21 deletion syndrome
• Xq28 duplication (AVPR2)