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Trisomy 13

Synonym: Trisomy 13, Bartholin-Patau-Syndrome
German: Trisomie 13, Pätau-Syndrom

1 Definition

The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there being three chromosome 13 copies (instead of normally two).

2 Epidemiology

Trisomy 13 is the third most common trisomy, after trisomy 21 (Down syndrome) and trisomie 18 (Edwards syndrome). The patau syndrome has an incidence of about one in 10’000 living born children.

3 Symptoms

The patau syndrome presents with various different malformations and behavioral problems:

It has to be noted, that the symptoms mentioned above are often present for patients with Patau syndrome, in many cases also in combination with each other – but it is not compulsory for all of the symptoms to be expressed.

4 Associated malformations

In addition there are further symptoms that often appear in connection with the Patau syndrome.

5 Prognosis

90% of the fetuses with Patau syndrome die before birth. Of the born alive children about 60% perish within the first year of life. Only about 10% of the affected reach an age above 5 years. There is a gender difference present: females have a longer life expectancy than males.

Specialties: Genetics

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