Patau syndrome belongs to the category of diseases caused by quantitative pathology of the chromosome set. This disease is characterized by the so-called trisomy - the presence of an additional thirteenth chromosome.
The chromosomal nature of the disease was first identified in 1960 by Dr. Klaus Patau, in whose honor it was named. The disease has another name - "Trisomy 13". Its frequency is one case per 5 - 7 thousand newborns. The disease is diagnosed with equal frequency in both sexes.
The development of this pathology is due to non-divergence of chromosomes during meiosis (a method of cell division responsible for a decrease in the number of chromosomes in daughter cells). As a result of a violation of this process, an additional thirteenth chromosome appears in the chromosome set, which is the fundamental cause of pathological changes and impaired fetal development.
To date, the chromosome theory of heredity does not confirm that this disease can be transmitted from generation to generation. It is believed that the violation of the process of division of chromosomes and their nondisjunction is a random event that occurred during the fusion of the genetic set of sperm and egg at the time of conception.
It was noted that the risk of this pathology in the fetus increases significantly with increasing age of the woman in childbirth. In addition, there are research results that prove the possibility of this chromosomal abnormality under the influence of radioactive radiation.
Many chromosomal diseases caused by numerical anomalies of chromosomes have quite specific clinical manifestations. Thanks to this, the disease can be diagnosed even without additional studies - by the appearance of the newborn. Patau syndrome refers specifically to such diseases, and is characterized by multiple developmental abnormalities.
The following congenital malformations are observed in a newborn child with Patau's syndrome: craniofacial anomalies - microcephaly, narrowed eye slits, small eyes, clouding of the cornea, sloping low forehead, sunken nose, clefts of the upper lip and palate, as well as multi-fingering, anomalies in the development of the feet .
Almost always, newborns with Patau syndrome have malformations of the intestine, central nervous system, kidneys, heart, genitals. Sick children suffer from deafness, mental retardation, convulsive syndrome, muscle hypotension.
Based on the clinical manifestations that characterize Patau syndrome, a preliminary diagnosis is made visually, immediately after the birth of the baby. Ultrasound scanning allows visualization of internal malformations, and chromosome analysis confirms the presence of a quantitative chromosomal abnormality.
Usually, children diagnosed with Patau syndrome die in the first months of life due to the presence of severe developmental abnormalities in almost all internal organs. Few of them live to be one year old. However, some patients live for several years, moreover, with appropriate care and adequate treatment, the lifespan of such children increases to 5-10 years. However, all of them, as a rule, suffer from a deep degree of mental retardation - idiocy.
As for medical care, it is usually aimed only at eliminating physiological problems. Usually, surgical correction of pathological changes in internal organs is carried out in order to maintain basic vital functions, as well as lip and palate surgery. The rest is shown purely symptomatic treatment, prevention of infectious and colds, thorough care.