Patau's Syndrome is a rare chromosomal anomaly, caused by trisomy of chromosome 13.
The disease was described by the physician Klaus Patau in 1960, who noticed the presence of 3 specific chromosomes in the same organism, when the normal would be only 2.
human beings have 46 chromosomes divided into 23 pairs.
Patau Syndrome occurs when an individual has 3 chromosomes in pair number 13.
Causes
Patau's syndrome originates in the female gamete and occurs due to non-disjunction of chromosomes during anaphase 1 of the meiosis.
This situation gives rise to gametes with 24 chromatids instead of 23. Thus, chromosome 13 of the egg, when uniting with chromosome 13 of the sperm, results in an embryo with trisomy.
This is due to the fact that a woman usually matures only one oocyte, as opposed to a man, who matures millions of sperm.
Thus, male gametes with alterations in the number of chromosomes have less viability than normal gametes and very few possibilities to fertilize an oocyte.
It is known that between 40% and 60% of patients with Patau Syndrome have mothers over 35 years old.
Learn more about chromosomes.
Symptoms
The main physical and physiological characteristics of Patau Syndrome are:
- Severe malformations of the central nervous system, such as arrhinencephaly (malformation of the brain);
- Low birth weight;
- Defects in the formation of eyes or their absence;
- Hearing problems;
- Abnormalities in breathing control;
- Cleft palate and/or cleft lip;
- Polycystic kidneys;
- Malformation of the hands;
- congenital heart defects;
- Urogenital defects;
- Polydactyly.
Most patients with Patau Syndrome are female.
Only 2.5% of fetuses with this trisomy are born alive, being one of the main causes of miscarriage in the first trimester of pregnancy.
Currently, there are already tests capable of identifying the affected chromosomes, giving an accurate diagnosis of the syndrome during pregnancy.
Read too:
- Genetic Diseases
- Mutation
- Introduction to Genetics
- Down's syndrome
- Turner Syndrome
Treatment
There is no specific treatment or cure for Patau Syndrome.
Patients with trisomy who are born alive are treated for symptoms and surgical interventions.
Due to the variety and severity of symptoms, Life expectancy it is very low and most babies die within the first month of life.
However, there are reports of children who lived to be 10 years old.