Emanuel syndrome

Emanuel syndrome, also called derivative 22 syndrome or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies. These include profound intellectual disability, preauricular skin tags or pits, and conotruncal heart defects. It can occur in the offspring of carriers of a constitutional chromosomal translocation between chromosomes 11 and 22, written t(11;22)(q23;q11). A 3:1 meiotic malsegregation event in such a carrier produces partial trisomy of chromosomes 11 and 22, and the resulting unbalanced translocation between chromosomes 11 and 22 is what is described as Emanuel syndrome. The syndrome was first described in 1980 by the American medical researchers Beverly S. Emanuel and Elaine H. Zackai, and by a consortium of European scientists in the same year.