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Patau syndrome, also called Bartholin-Patau or Trisomy 13 syndrome, is a chromosomal abnormality, in which the patient has an extra copy of chromosome 13. Trisomy 13 is characterized by multiple serious, both anatomic and functional alterations in organs and vital systems. It is for this reason that many of the children who are born with this condition do not survive beyond the first three months of life, and according to the scientific literature around 80% of fetuses affected by this problem do not reach term.
The prevalence of this syndrome is low, one case per each twelve thousand newborns alive, and occurs more in girls than in children, probably because male fetuses with this syndrome survive less than female fetuses.
In history are records of Patau syndrome since 1657, when the medical Danish anatomist Thomas Bartholin made the first description of a case, but it was not until 1960 that his medical geneticist Klaus Patau reported the presence of an additional thirteen chromosome in these patients.

What is the cause of Patau syndrome?

As in other syndromes caused by chromosomal alterations, when the reproductive cell (either the maternal ovum or the paternal sperm) divides an inadequate migration of chromosomes occurs and there is an extra copy of chromosome 13, which may well be present in all cells, in which case it is called Trisomy; or may be present only in some cells and others do not, what is called mosaicism; Finally only a part of the extra chromosome in every cell, can be what is known as a partial Trisomy .
Advanced maternal age is a risk factor for this syndrome. On the other hand, must be taken into account as Patau syndrome not inherited from parents to children.

Patau syndrome symptoms

These are the common more signs that present those affected by Patau syndrome:

Malformations of the nervous system

  • Dilation of the cerebral ventricles.
  • Ruling on the division of the brain into two hemispheres during the embryonic period (holoprosencephaly).
  • Severe mental retardation.
  • Epilepsy.

Head and neck malformations

  • The size of the smaller head than normal (microcephaly).
  • Very small eyes (microphthalmia) or very close to that even they can be fused into one. They may also have a recess in the iris of the eye, which is called a coloboma.
  • Small Chin (micrognathia).
  • Cleft lip or cleft palate.
  • Absence of the nose or nasal malformations.
  • Ears (ears) of low implementation.

Abdominal malformations

  • Umbilical or inguinal hernias.
  • Omphalocele (malformation of the abdominal wall through which the viscera are outside the abdominal cavity, which occur during the embryonic period).
  • Bladder Exstrophy (malformation of the bladder and urethra).
  • Renal Agenesis (one or two kidneys absent at birth).
  • Absence of testes in the scrotum or Undescended testicles.

Cardiac malformations

  • Location of the heart on the right side of the chest instead of the left side which is called dextrocardia.
  • Pathological communications between various cavities of the heart, the ventricles and Atria.
  • Abnormal heart valves.

Malformations in the extremities

  • Presence of extra on hands and feet (polydactyly) fingers.
  • Foot valgus (deviation of the foot away from the midline).
  • Hands in the form of fist (webbing of the fingers).
  • Fold in the Palm of your hands.
  • Decreased muscle tone (hypotonia).

Diagnosis of Patau syndrome

· Patau syndrome can be detected during the embryonic period, either through an obstetric ultrasound, which are often detected at an early stage the different anatomical malformations of fetuses. Also through the karyotype (chromosome map) using fetal cells obtained by biopsy of villus sampling (which are part of the fabric of the placenta), amniocentesis (to obtain amniotic fluid) or funiculocentesis (one of blood vessels in the umbilical cord puncture).
· If the mother has not controlled its pregnancy, the diagnosis can be immediately after birth, because the morphological features of these newly born are well known by paediatricians and neonatologists. Presumptive diagnosis should be confirmed by karyotype of the newly born and various imaging studies such as brain, abdominal ultrasound, echocardiography, CT, which is may rating malformations of different organs and systems typical of this syndrome.

Genetic counseling

· If a partner has conceived a fetus with Trisomy 13 previously and want to try a new pregnancy they should be studied exhaustively by specialists in genetics and reproduction to try and control the possible risk factors, even though the probability of recurrence is low.
 

Treatment and prognosis of Patau syndrome

There is no treatment available for this syndrome; the only thing that can be done is to work the complications that may arise early palliative.
Because all malformations described, the prognosis of Patau syndrome-affected children is very bad and the complications begin practically from birth, the severity of them will depend on the organs and systems affected. The main complications are usually:
  • Respiratory problems, such as apnea, by what may require ventilation in a neonatal intensive care unit.
  • Feeding difficulties, are not as able to suck, so they must be fed through a tube nasogastric tube.
  • Seizures, changes in vital signs such as heart rate, blood pressure or heart rate, among others.
If the baby with Patau syndrome can survive these complications hardly reach the year of life.
Published for educational purposes
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