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
Famous quotes containing the words emanuel and/or syndrome:
“Begin with loss and see
how the world contradicts you,
how the horizon implies that beyond it
the water is not empty
but full of ships
all docking at another island.”
—Lynn Emanuel (b. 1949)
“Women are taught that their main goal in life is to serve others—first men, and later, children. This prescription leads to enormous problems, for it is supposed to be carried out as if women did not have needs of their own, as if one could serve others without simultaneously attending to one’s own interests and desires. Carried to its “perfection,” it produces the martyr syndrome or the smothering wife and mother.”
—Jean Baker Miller (20th century)