overview
- Illustration shows the chromosomes of a person with Down syndrome
The Genetic Basis of Down Syndrome Open Contextual Dialogue
Down syndrome is a genetic disease that is caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This additional genetic material causes the developmental changes and physical characteristics of Down syndrome. - The severity of Down syndrome varies between individuals, resulting in lifelong intellectual disability and developmental delays. It is the most common genetic chromosomal disease and the cause of learning difficulties in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal problems. Down syndrome treatment in Hyderabad
symptom
Everyone with Down syndrome is an individual – intellectual and developmental problems can be mild, moderate, or severe. Some people are healthy while others have significant health problems such as serious heart defects.
Children and adults with Down syndrome have different facial features. While not all people with Down syndrome have the same characteristics, some of the most common characteristics include: Down syndrome treatment in Hyderabad
- Flattened face
- Small head
- Short neck
- Protruding tongue
- Eyelids tilted upwards (eyelid tears)
- Unusually shaped or small ears
- Poor muscle tone
The reasons
- Human cells usually contain 23 pairs of chromosomes. One chromosome in each pair comes from your father and the other from your mother.
- Down syndrome occurs when abnormal cell division occurs on chromosome 21. These abnormalities in cell division result in an additional partial or complete chromosome 21. This additional genetic material is responsible for the characteristics and developmental problems of Down syndrome. Any of the three genetic variations can cause Down syndrome:
- Trisomy 21. About 95 percent of Down’s syndrome is caused by trisomy 21 – the person has three copies of chromosome 21 in all cells instead of the usual two. This is caused by abnormal cell division during the development of the sperm or egg.
Mosaic Down Syndrome. In this rare form of Down syndrome, a person has few cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization. Down syndrome treatment in Hyderabad
Risk factors
Some parents are at higher risk of having a baby with Down syndrome. Risk factors are:
Premature age of the mother. A woman’s chances of having a child with Down syndrome increase with age, as older eggs have a higher risk of incorrect chromosome division. A woman’s risk of fathering a child with Down syndrome increases after she is 35 years old. However, most children with Down syndrome are born to women under the age of 35 because younger women have many more babies.
Be a carrier of Down syndrome genetic translocation. Both men and women can pass the genetic translocation of Down syndrome on to their children.
Having a child with Down syndrome. Parents who have a child with Down syndrome and parents who have a translocation themselves are at increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.
Complications
People with Down syndrome can have a variety of complications, some of which become more serious as they age. These complications can be:
Heart defect. About half of children with Down syndrome are born with a congenital heart defect. These heart problems can be life-threatening and may require surgery in early childhood.
Gastrointestinal defects (GI). Gastrointestinal abnormalities occur in some children with Down syndrome and can include abnormalities of the bowel, esophagus, trachea, and anus. The risk of digestive problems such as gastrointestinal blockages, heartburn (gastroesophageal reflux disease) or celiac disease may be increased.
Immune diseases. Because of abnormalities in their immune system, people with Down syndrome are at increased risk of developing certain autoimmune diseases