Emanuel Syndrome
Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. An unbalaced translocation between chromosomes 11 & 22 is described as Emanuel syndrome. It was characterized in 1980.
Read more about Emanuel Syndrome: Causes, Sign and Symptoms, Genetics, Treatment
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