Patau Syndrome

Patau syndrome

The Patau syndrome was first described by Dr. Thomas Bartholin in 1656 and his first cytogenetic description was performed on a patient by German scientist Klaus Patau et al in 1960, so the disease he is also known as Syndrome bartholin-Patau.

 Recognition of Dr Patau syndrome was observing a case of multiple malformations in a newborn with trisomy 13 ; this means the presence of an extra copy of the X chromosome, leading to individual sufferer to have three chromosomes 13 instead of the two that would be the normal condition. Normally, humans have 23 pairs of chromosomes, ie chromosomes are divided into 46 pairs of two chromosomes 23.

It is caused because no chromosomal separation during the first phase of mitosis (cell division process), generating gametes with 24 chromatids.

 Trisomy originates in the female egg , by the fact that in the mature female usually just one egg, as opposed to the male sperm mature million. Male gametes carriers numerical alterations in their chromosomes have lower than normal gamete viability, with minimal chances of a male gamete with 24 chromatids can impregnate an oocyte.

Generally Patau syndrome can be characterized as a genetic disease rarely cause birth defects in the nervous system, heart defects and cracks in the lip or the roof of the mouth of the baby.
Patau Syndrome affects more likely to babies of mothers who become pregnant after 35 years.

PATAU SYNDROME DIAGNOSIS

Today, already available different tests can identify in detail the affected chromosomes and their segments, reaching an accurate diagnosis of the syndrome even before birth. After detected trisomy performing some additional tests to confirm the diagnosis is necessary.

Some of the specific tests to diagnose Patau syndrome during pregnancy are amniocentesis and ultrasound.

The incidence of trisomy 13 is much higher for female infants, affecting about 1 in 6000 live births. Only about 2.5% of fetuses with trisomy 13 live births, which is one of the main causes of spontaneous abortion during the first three months of pregnancy. Approximately 45% of patients die after the first month of life, 70% at 6 months and only less than 5% of patients survive more than 3 years, most survival recorded in the literature was 10 years old.

Patau Syndrome characteristics:

The characteristics of children with the syndrome are:

  • Malformations serious central nervous system
  • severe mental retardation
  • Congenital heart defects
  • urogenital defects, such as not lowering the testicles from the abdominal cavity to the scrotum of males and in the case of females, changes in the uterus and ovaries undeveloped
  • polycystic kidneys
  • lip and roof of the mouth or palate cleft
  • Malformations of the hands
  • Defect in the formation of the eyes (small eyes extremely remote, or absence thereof)
  • Some babies may have low birth weight
  • malformed ears
  • clenched fists and arched soles
  • front oblique
  • Possible presence of a sixth finger on the hands or feet.

PATAU SYNDROME TREATMENT

The treatment of this syndrome as such does not exist, the most that can be done is by way of palliative coping complications that may arise and will depend on the severity of the disease. Surgery may be needed to repair heart defects or cracks on the lips or palate. Respiratory problems that may arise as apnea may require assisted ventilation unit neonatal intensive care. Difficulties children be fed since they may not be able to suckle, can help by feeding with a nasogastric tube . Physiotherapy, speech therapy and occupational therapy can help the development of the surviving children.

Because of all the defects generated with this syndrome, the prognosis of affected babies is very negative and complications ensue practically from birth.

Who suffers from Patau syndrome will require constant monitoring from the birth of a multidisciplinary team. The trend is that the complications presented at birth are just the beginning, aggravating the situation with decorrer time.
In addition to this, parents of children suffering from the syndrome require specific psychological treatment and training for child care because of that training may depend on patient survival.

PATAU SYNDROME VIDEO

In this graphic document, we will learn more and especially visualize Patau syndrome explained under the scientific rigor (Spanish Source: Telemundo / Youtube.com)

REAL CASE: DAUGHTER OF WISIN PATAU SYNDROME

Trisomy 13 Wisin

We often believe that the famous (players, singers, actors …) are immortal or does not happen anything wrong. Nothing could be further from the truth. As for diseases, no one is untouchable.

September 6 was made public that the daughter of Wisin (reggaetonero famous group “Wisin & Yandel”), was born with the genetic disease Patau.

Both he and his wife Yomaira Ortiz , are absolutely sunk. It was the singer from her own Instagram, who made public the news of the genetic disease of his daughter .

From this site, we can only send many forces Wisin and his family in these hard times. Life is a very tough test, easy and you have to go beating.

SAD NEWS: WISIN’S DAUGHTER DIES

Unfortunately, almost a month after it jumped the news about the illness of the daughter of Wisin at birth, from Syndrome and much to our regret, we announce that today, September 30, 2016,  the daughter of Wisin dead trisomy 13.

So we did know the famous singer from his Instagram account by a photo of his wife and daughter in what it means their sad farewell. In this photo adds a message of thanks to all those who have helped the artist to bring in the best way possible this evil drink.

Without further ado, and as we did to know that your daughter contracted this illness lasts, we can only send a lot of encouragement to the family and wish to leave that emotional hole that must be found.

Much encouragement to those families with a member who has been able to develop Patau syndrome. It is possibly one of the most delicate syndromes treated Syndromes D, but not stand alone. Remember that there are always people willing to help.

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