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Tetrasomy 9p is a very rare chromosomal disorder, accompanied by various unpredictable symptoms, so is there any way to diagnose before birth to know if you have Tetrasomy 9p? Let’s find out with lassho.edu.vn.
What is Tetrasomy 9p?
Normally, there are 2 copies in the short arm of chromosome 9 in a normal person, while in Tetrasomy 9p syndrome there are 4 copies.
A normal person has 23 pairs (total 46) chromosomes in a cell. Each chromosome consists of a long arm (q) and a short arm (p) separated by the centromere.
What is Tetrasomy 9p?
People with Tetrasomy 9p have an extra chromosome in addition to the normal pair of chromosome 9, which includes two short arms of chromosome 9 . This abnormal chromosome will have 1 or 2 centromeres. Therefore, if a person carries Tetrasomy 9p, there will be a total of four short arms of chromosome 9 present in the cells of the body.
Patients carrying Tetrasomy 9p will leave many symptoms such as: Psychomotor retardation; mental retardation.
Ways to make prenatal diagnosis
Tetrasomy 9p can be pre-diagnosed by ultrasound or amniocentesis and chorionic villus sampling (CVS) . Or it can be postpartum on peripheral blood samples to do cytogenetic tests such as Karyotyping (Chromosome Formulation), FISH (Fluorescent In situ hybridization).
Ways to make prenatal diagnosis
The same number of specialized tests are intended to detect and characterize certain abnormalities associated with the disorder.
In particular, in some cases it is advisable to analyze the increased activity of the enzyme galactose-1-phosphate uridyltransferase (GALT) regulated by a gene located on the short arm of chromosome 9 (9p13) to check for pre-diagnosis. born.
Tetrasomy 9p . Treatment
Depending on the characteristics of each individual, treatment is also very different, some of the main treatment methods are : special education, speech therapy, physical therapy, medical services, social and other vocational training,…
Tetrasomy 9p . Treatment
Hopefully the above sharing about Tetrasomy 9p will help you better understand this disease and some effective treatments, thank you for following the article.
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