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 ev...
Found on http://en.wikipedia.org/wiki/Emanuel_syndrome

Emanuel Syndrome

Emanuel syndrome is also known as partial Trisomy 11;22. Emanuel syndrome occurs when there is a translocation between genes 11q and 22 q. Signs of this condition include a small head, abnormally shaped ears with tags, a long philtrum, cleft palate, dislocated hips, low muscle tone, broad nose and small chin. Boys may have undescended testicles...
Found on http://www.pregnology.com/Pregnancy-dictionary/
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