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Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells. More detailed information about the symptoms, causes, and treatments of Duplication 18 is available below.
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Prognosis for Duplication 18: The prognosis varies depending on the nature and severity of symptoms present in individual cases but most patients die before birth. Of those that survive the birth, only a small number will survive the first year of life. Survival into the teens does occur but patients often have severe health problems. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.
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