Trisomy 21 Syndrome
Trisomy 21 Syndrome Causes
Trisomy 21 syndrome is caused by the abnormal cell division of the 12st chromosome during the development of the sperm cell or the egg cell resulting in extra genetic material.
Trisomy 21 Syndrome Definition
Trisomy 21 syndrome is a form of down syndrome, which is caused by the abnormal cell division involving the 21st chromosome during the development of the sperm cell or the egg cell.
Trisomy 21 Syndrome Diagnosis
Screening tests during pregnancy help identify whether the mother is at risk of carrying a baby with Down syndrome. Blood tests and ultrasound are used in screening the condition. If they indicate Down syndrome, the patient may undergo more invasive tests to determine if the baby actually has Down syndrome. The condition can also be identified through diagnostic tests during pregnancy such as amniocentesis, chorionic villus sampling, and percutaneous umbilical blood sampling. Newborn infants are diagnosed based on their appearance. If some or all of the characteristics of Down syndrome are apparent, the doctor may order a chromosomal karyotype to analyze the child's chromosomes. The existence of an extra chromosome 21 in all or some of the cells indicates Down syndrome.
Trisomy 21 Syndrome Symptoms and Signs
Children with the condition share common features such as flattened facial features, protruding tongue, small head, unusual upward slanting eyes, and unusually shaped ears. They may also have poor muscle tone, broad, short hands with a single crease in the palm, relatively short fingers, excessive flexibility, delayed and stunted growth. They may also be either mildly or moderately mentally retarded.
Trisomy 21 Syndrome Treatment
The condition cannot be cured. Treatment is focused on detecting and treating complications such as heart defects, gastrointestinal problems, and hearing problems. Therapy may also help in the child's development such as helping the child learn to roll over, sit up, and walk. Therapy also helps with the child's feeding, hand coordination, and language skills.