What’s trisomy 21?

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Trisomy 21, or Down syndrome, is caused by an extra copy of chromosome 21 and affects one in 660 newborns. It causes mental retardation and physical characteristics such as slanted eyes and a protruding tongue. Individuals may also experience delayed growth, congenital heart defects, and gastrointestinal abnormalities. There is no cure, but treatments aim to correct medical conditions and provide special education and regular health screenings.

Trisomy 21, also known as Down syndrome, is a chromosomal abnormality caused by an extra copy of chromosome 21. Individuals with this condition usually have mental retardation, although other health problems may also be present. This is a common birth defect, appearing in about one in 660 newborns.
Individuals with trisomy 21 are typically recognizable based on some specific physical characteristics. A child with Down syndrome may have a smaller than normal head. His facial features may include slanted eyes, out of the ordinary for his family and ethnic group, a flat nose, and a protruding tongue. There may be a rounded fold of skin at the inner corner of your eyes. Broad hands with short fingers are typical, as are palms with a single crease, rather than multiple creases.

These children typically experience delayed growth and slower-than-normal development, and usually don’t reach the typical heights of adults. Individuals often have congenital heart defects and early death can occur as a result. Lesions of the iris, affecting the colored part of the eye, can also be seen. An individual with trisomy 21 may also have separation of the joints between the bones of the skull.

Gastrointestinal abnormalities are also common among these individuals. For example, obstruction of the esophagus or duodenum is quite common, and some cases are severe enough to require surgery. Additionally, people with Down syndrome are diagnosed with acute lymphocytic leukemia, a malignant and life-threatening cancer, at a higher rate than other children. However, around 80% of affected children are cured thanks to advances in modern medicine.

There are many tests used to diagnose trisomy 21 and related conditions. Chromosome studies are used to detect extra copies of the 21st chromosome. Chest X-rays and electrocardiograms are used to diagnose cardiac abnormalities, and gastrointestinal C-rays are used to detect defects in this area when symptoms suggest an obstruction. For example, if a child is experiencing unusual vomiting, a doctor may decide to use special X-rays to determine if an obstruction is present.

Currently, there is no treatment or cure for this condition. Instead, treatments aim to correct the medical conditions that occur as a result of the syndrome. Treatment may include special education for people with mental handicaps and developmental delays. Individuals may also need to participate in regular screenings for health problems, as they are more susceptible to certain types of infections.




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