Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals - Free access available online: Click here for PDF format or here for HTML version

Below are several links to full text articles available on either the 11/22 translocation and Emanuel Syndrome. Most of the reference articles are not available on the internet. 

More articles:

• updated 2008 - Drug therapy study in an 11/22 patient by Dr. Renato Cocchi - Italy
• Der(22) Syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
• The position of t(11;22)(q23;q11) constitutional translocation ...
• Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint
• Fine mapping of the constitutional translocation t(11;22)(q23; ...
• Long AT-rich palindromes and the constitutional t(11;22) breakpoint
• Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
• High rate of de novo constitutional t(11;22) translocations in sperm from normal males
• A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2
• Hippocampal malrotation in supernumerary der(22) syndrome and epilepsy: a case report
• The position of t(11;22)(22q11q) constitutional translocation breakpoint is conserved among its carriers
• Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)
• Nihilism in the 1990s: The True Mortality of Congenital Diaphragmatic Hernia (Mentions 11/22 case in relation to)
• Quirks of Genomic Disease