Articles on genetics

Types, signs and treatment of congenital heart defects Among the most frequently diagnosed congenital pathologies are heart defects. They appear in the first days of a child's life. However, when carrying out an ultrasound examination of the fetus with modern equipment at the stage of its bearing, t

Down syndrome is not a disease, but a genetic feature that affects a person's appearance and psycho-emotional development. In the first months of life, such a child practically does not differ from his peers, but the older he gets, the more peculiarities in behavior and development are revealed. Th

Epidermolysis bullosa: causes, symptoms, treatment Epidermolysis bullosa is not a single pathology, but a whole group of hereditary nosologies, manifested by a slight tendency to injure the skin. The main manifestation is the formation of bubbles with liquid content on the skin, and after their diss

Symptoms of hemophilia. Is there a gene for hemophilia Hemophilia is a hereditary disorder of blood clotting. You may hear the term "blood hemophilia", but it is incorrect - the name of the disease already contains a blood problem. The first descriptions of hemophilia symptoms observed in boys date

Pierre Marie cerebellar ataxia is a hereditary degenerative condition with a predominant lesion of the cerebellum (during histopathological examination, atrophy of cells of the cortex, nuclei of the cerebellum and pathways: spinocerebellar and pyramidal, is determined). The condition occurs in sever

What is hypoplasia? Causes, symptoms, treatment of hypoplasia Hypoplasia is the underdevelopment of an organ or tissue. This is a common and main feature of the pathology, it can be hypoplasia of the kidneys, brain or hypoplasia of a segment of the right or left vertebral artery. Underdevelopment o

Neurofibromatosis in children: types, causes, symptoms, treatment What is neurofibromatosis? This is the name given to a group of diseases with similar clinical manifestations. The cause of neurofibromatosis is mutations in certain genes. It is believed that in half of the cases they are inherited f

Trisomy - what is it, types, causes Trisomy is the presence of an additional (extra) chromosome in the human karyotype. The violation occurs for very different reasons. Diseases caused by trisomy belong to the category of genetic causes. Types of trisomies The most popular types are: trisomy on

Cystic fibrosis is a genetic pathology transmitted in an autosomal recessive manner. The disease is characterized by a violation of the secretion of exocrine glands and the functioning of vital organs. The respiratory and digestive systems are mainly involved in the pathological process. Mutation o

Types, signs and treatment of congenital heart defects Among the most frequently diagnosed congenital pathologies – malformations of the heart. They appear in the first days of a child's life. However, when carrying out an ultrasound examination of the fetus with modern equipment at the stag

Cystic fibrosis – what is this disease This is a genetic pathology that is inherited according to the autosomal recessive type, that is, only in those cases when the defective gene is carried by both parents. Disruption of the secretion of exocrine glands is characteristic of the disease. With