Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture

作者：Tutulan Cunita Andreea Cristina; Budisteanu Magdalena; Papuc Sorina Mihaela; Dupont Jean Michel; Blancho Dominique; Lebbar Aziza; Viot Geraldine; Lungeanu Agripina; Arghir Aurora^*

来源：Psychiatry Research, 2012, 197(3): 356-357.

DOI：10.1016/j.psychres.2011.11.016

• Microdeletion syndrome
• Intellectual disability
• Repetitive elements

22q11.2 deletion syndrome, the most common microdeletion syndrome, exhibits a broad range of phenotypes, implying a cumbersome diagnosis due to atypical or paucisymptomatic presentations. We present two atypical cases of 22q11.2 deletion syndrome and suggest a preferential occurrence of the breakpoints in regions poor in repetitive elements of SINE/Alu family.

• 出版日期2012-5-30