Emanuel syndrome Definition Terminology Encyclopedia Online

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.
Emanuel syndrome
To elucidate the mechanism of the malsegregation of the der(22), Shaikh et al. (1999) analyzed 16 families with the t(11;22) ...

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