ovarian cancer Stages and Treatment

 

Down Syndrome causes, types and Symptoms 

Description of Down Syndrome 

Down's syndrome is a chromosomal abnormality associated with intellectual disability, characteristic facial expressions, and hypotonia (hypotension) in infancy. All affected individuals experience cognitive delays, but intellectual disability is usually mild to moderate. 

 People with Down Syndrome should have a characteristic facial appearance such as a flat face appearance, upward outer corners of the eyes (raised eyelid fissures), small ears, a short neck, and a tongue that sticks out of the mouth. Is often. Affected individuals can have a variety of birth defects. Many people with Down Syndrome have small limbs and one wrinkle on their palms. About half of all affected children are born with heart defects. Digestive disorders such as intestinal obstruction are less common. 

 People with Down Syndrome are at increased risk of developing multiple disorders. These include gastroesophageal reflux disease, which is the reflux of acidic gastric contents into the esophagus, and celiac disease, which is intolerant to a wheat protein called gluten. About 15% of people with Down syndrome have hypothyroidism (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower part of the neck that produces hormones. People with Down Syndrome are also at increased risk of hearing and vision problems. In addition, a small proportion of children with Down syndrome develop blood cell cancer (leukemia). 

 Developmental delay and behavioral problems are commonly reported in children with Down syndrome. Affected people may have growth problems, and their language and language develops slower and slower than children without Down Syndrome. In addition, people with Down Syndrome may have difficulty understanding the conversation. Behavioral issues include attention issues, obsessive-compulsive behavior, stubbornness and tantrams. A small proportion of people with Down Syndrome have also been diagnosed with a developmental disorder called the Autism Spectrum Disorder, which affects communication and social interactions. 

 People with Down Syndrome often have a gradual decline in thinking (cognitive) abilities with age, usually due to memory, judgment, and agents, usually 50 years old. About half of adults with Down syndrome develop Alzheimer's disease. Alzheimer's disease is a symptom that usually occurs in the elderly, but people with Down syndrome often develop it in their early 50s or 60s.

Causes Of Down Syndrome

Causes and risk factors for Down syndrome 

 For most people, every cell in your body has 23 pairs of chromosomes. One chromosome in each pair is from the mother and the other is from the father. 

 However, there is a problem with Down Syndrome and there is an extra copy of chromosome 21. That is, you have the symptoms of Down Syndrome because you have three copies instead of two. Doctors don't know why this is happening. It has nothing to do with anything in the environment, or what the parents did or did not do.

Most cases of Down's syndrome result from trisomy 21. This means that every cell in the body has three copies of chromosome 21 instead of the usual two copies. 

 Although less common, Down's syndrome is a part of chromosome 21 attached (migrated) to another chromosome during the formation of germ cells (egg and sperm) in one parent or at a very early stage of fetal development. ) Occurs. Affected people have two normal copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, and three copies of the genetic material on chromosome 21. Bring. Individuals affected by this genetic change are said to have Translocation Down Syndrome. 

 A very small percentage of people with Down syndrome have an extra copy of chromosome 21 in just a few cells in the body. In these people, this condition is known as Mosaic Down Syndrome. Researchers believe that extra copies of the gene on chromosome 21 disrupt the normal developmental process, leading to an increased risk of health problems associated with the characteristic features of Down's syndrome and its condition.

Inheritance of Down Syndrome 

Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, chromosomal abnormalities occur as random events during the formation of germ cells in one parent. Abnormalities usually occur in egg cells, but can also occur in sperm cells. An error in cell division called nonseparation results in germ cells with an abnormal number of chromosomes. For example, eggs and sperm cells can get an extra copy of chromosome 21. If one of these atypical germ cells contributes to the genetic makeup of the child, the child has an extra chromosome 21 in every cell of the body. 

 People with Translocation Down Syndrome can inherit the condition from unaffected parents. The parent has a rearrangement of the genetic material between chromosome 21 and another chromosome. This relocation is called a balanced translocation. These chromosomal changes usually do not cause health problems, as no genetic material is gained or lost in a balanced translocation. However, if this translocation is passed on to the next generation, it can become imbalanced. People who inherit an imbalanced translocation involving chromosome 21 may have extra genetic material from chromosome 21 that causes Down's syndrome. Like Trisomy 21 in 

, Mosaic Down Syndrome is not inherited. It occurs as a random event during early cell division during fetal development. As a result, some somatic cells have two copies of normal chromosome 21, while others have three copies of this chromosome.