Patau syndrome

Patau syndrome (trisomy of chromosome 13; PATA syndrome, Trisomy 13) is classified among relatively rare diseases caused by genetic abnormalities. The genetic deviation is due to an abnormality on a chromosome.

The frequency of Patau syndrome is one case per 10,000 live births, although it is believed that the true frequency may be much higher, as many pregnancies affected by Patau syndrome end prematurely with spontaneous miscarriage.

Diagnosis

As mentioned above, this is a genetically determined disease, and its cause is an extra chromosome 13 that appears in the cells of the affected individual. One can imagine it like this: a normal healthy individual has 46 chromosomes in their cells, arranged into 23 pairs. A patient with Patau syndrome has one extra chromosome, therefore 47, because chromosome 13 is present three times. This extra chromosome may originate from either the father or the mother.

Treatment

Unfortunately, the development of Patau syndrome cannot be prevented. However, prenatal diagnostics today are at such a level that doctors are able to detect certain congenital malformations while the fetus is still in the womb, through prenatal screening tests.

Treatment is symptomatic (genetic diseases are incurable). Sadly, many children born with Patau syndrome die within a few days to weeks after birth. Congenital heart defects, facial deformities, and limb deformities can be treated surgically. Intellectual disability and the overall disruption of the child’s development require the use of special education, rehabilitation, and occupational therapy.

• ťažké narušenie rastu
• zaostávanie v mentálnom vývoji
• nízka pôrodná hmotnosť
• deformácia hlavy a tváre
• hlava je malá (mikrocefália)
• čelo výrazne vystúpené
• poruchy oka (oči blízko pri sebe, malá veľkosť očí, chýbanie jedného / oboch očí a pod.)
• rázštepové chyby
• deformácie končatín, obzvlášť prstov
• nadpočetné prsty (polydaktýlia)
• vrodené chyby obličiek
• vrodené srdcové chyby