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Trisomy 18


This syndrome is caused by the presence of an extra chromosome 18 - i.e. there are three number 18 chromosomes instead of the normal two. The syndrome results in death in 90% of infants either during pregnancy or before they are a year old. The estimated frequency of live births is 1:5000, and it increases with the mother's age. It is four times more common in females than in males.

Fetuses with this syndrome present with a wide spectrum of findings, of which the main ones are intrauterine growth retardation, a small head, typically clenched hands, heart defects, kidney defects, etc. Up to now, approximately 130 defects associated with trisomy 18 have been described. Fetuses with this trisomy in only some of their cells (mosaics) have a better chance of survival.
 
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