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Trisomy 13


In this condition there is an extra chromosome 13, so that there are three number 13 chromosomes instead of two. The frequency is estimated to be 1 in every 5,000 births. This syndrome ends in death - 86% die in the uterus or in the first year of life, and only a few survive to the age of 5 years. In most cases, midline structures are affected, and the usual manifestations are cleft lip and palate, polydactyly (extra fingers and toes), holoprosencephaly or cyclopia, a small head circumference, abnormalities in the cranial skin, defects of the heart and kidneys, etc. A small percentage of cases occur when the trisomy is present in only some of the cells, while others cells are normal - this condition is known as mosaicism.

The risk of having a child with this syndrome increases with maternal age.
 
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