Definition of Syndrome, trisomy 18
Syndrome, trisomy 18: There are three instead of the
normal two chromosomes #18. Children with this condition have multiple malformations and
mental retardation due to the extra chromosome #18. The children characteristically have
low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of
the heart and kidneys, clenched fists with abnormal finger positioning, and malformed
feet. The mental retardation is profound with the IQ too low to even test. Nineteen out
of 20 (95%) of these children die before their first birthday. The condition is also
called Edwards syndrome in honor of the British physician and geneticist John Edwards who
discovered the extra chromosome in 1960.
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