Down Syndrome

Down syndrome (Down S Syndrome) is a disease that occurs as a result of a genetic abnormality in which an additional chromosome appears in the human body (instead of two chromosomes 21 there are three); as a result, the total number of chromosomes becomes 47, whereas normally it should be 46. The chances of having a child with Down syndrome increase as women age.

Affected people have characteristic features, including: a flat face with slanted eyes (like the Mongoloid race, which is why this disease was previously called Mongolism); wide hands with short fingers and a single fold running along the palm; underdeveloped ears and eyes with spotted irises (Brushfeld spots); short stature and hypotension.

Many also show signs of mental retardation, although the range of these signs is quite wide and some patients have completely normal intelligence. Deviations associated with Down syndrome are heart defects (they occur in approximately 40% of sick children), intestinal underdevelopment, deafness and strabismus.

Prenatal diagnosis of the presence of Down syndrome in the fetus can be obtained by amniocentesis, chorionic villus testing, and triple marker testing; Chromosome analysis is also used to identify this disease. Down syndrome can also develop as a result of chromosome redistribution (translocation) or as part of mosaicism.

Medical name: trisomy 21.

Down syndrome (also known as trisomy by chromosome number, the most common variant is Down syndrome 47, and 48 or 49, or the most common variant, also "Manifested in the mother" (eng. PMB / "parthenogenesis" - the term describes the process of pathology, which is caused by the presence of an additional chromatid in cells that does not have a pair, since the 2nd chromosome itself from its beginning has two partners) and the English “full parthenogenetic” (a disproportionate number of 23-chromosomes themselves

Good afternoon, dear readers! Today I would like to tell you about a disease called Down syndrome. This disease occurs as a result of genetic disorders and is a serious illness that is associated with a serious risk to life.

Down syndrome occurs when a person has an extra chromosome. Instead of the expected 46 chromosomes, humans have 47 chromosomes. This chromosomal imbalance leads to physical deformity and intellectual disabilities. A person with Down syndrome has signs of Mongoloidity - short fingers and toes, a flat face and wide-set eyes. Often the syndrome is accompanied by the mind

Down Syndrome is one of the most common chromosomal disorders. It is a mutation that results in an extra chromosome in the cell. This results in a change in the number of chromosomes in the human genome to 47 instead of the usual 46. This disease affects people without warning and presents with a variety of symptoms. In this article we will take a closer look at Down syndrome and its symptoms.

Down syndrome has common features that make it characteristic of this condition. These include a flat, wide face with narrow eyes, wide legs with short nails, and a flat build.