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Noonan syndrome refers to a genetic defect that is mark by unique facial features , philia - come to problem , musculoskeletal abnormality , and brusque stature . Most people pretend by Noonan syndrome do not have intellectual difficulties . However , some may have learning difficulty . Noonan syndrome is a rarified disorder and occurs in 1 in about 2500 unrecorded births.(2 )
Can Amniocentesis Detect Noonan Syndrome?
Amniocentesis can find Noonan syndrome if it is analyzed for disease - have alterations or mutations . The DNA is separated from the cells of the growing baby in the process of amnio and is then studied for variation or alterations . Noonan syndrome can thus be name with the help of amniocentesis.(2 )
Does Microarray Test Help In Detecting Noonan Syndrome?
A chromosome microarray test or analysis is well done for cognise conditions . For example , 22q11.2 omission syndrome . Microarray analysis is also a first - line test done for multiple congenital anomalies and developmental disabilities(3 )
For Noonan syndrome , next - generation sequence or NextGen is more helpful , as the affected individual ’s phenotype devolve within a syndrome kinsfolk clearly but is not enough for diagnosis . Through next - generation sequence , many genes can be tested at once . Gene panel tests also are cost - effective , fall the testing clip and abridge stock - draws . Also , conditions like Noonan syndrome may also develop due to a variation in many different gene , which are well-off to detect with panel testing.(3 )
Thus , the microarray may not be an ideal test for Noonan syndrome . Next - generation sequence is much favorite to microarray tests in the case of Noonan syndrome.(3 )
Noonan syndrome is a result of genetic alteration or chromosomal mutation . These alteration can hap in one factor or many genes at a time . When there are mutation in a gene , it leads to the product of proteins . These proteins stay active continually . And since these genes wreak a role in the creation and growing of many body tissue , this continuous natural process of the proteins disrupts all other normal increase processes execute by those genes.(1 )
The mutations or alterations that lead to Noonan syndrome may be of two types – Inherited or random.(1 )
Inherited - Kids who have one parent with Noonan syndrome carry a fifty percent risk of inherit this condition
Random - Noonan syndrome can also be see randomly in kids , without any parents bear this condition . This encounter because of a random mutation occurring in genes
Diagnosis Of Noonan Syndrome
in the main , the doctor would look for a few primal signs . However , it may be unmanageable at meter as the feature article may be subtle or not too easy to identify . Sometimes , Noonan syndrome is only diagnosed after a small fry reaches adulthood . Molecular genetical examination is done to help oneself confirm the diagnosis of Noonan syndrome(4 )
Complications Of Noonan Syndrome
Some complications that may rise due to Noonan syndrome are-
Other complication like a peril of develop cancers like leukemia or some types of tumors(1 )
Conclusion
Amniocentesis can discover Noonan syndrome with the aid of an psychoanalysis of the DNA . Microarray examination might not be the test call for for confirm Noonan syndrome . On the other bridge player , next - generation sequencing ( NextGen ) is much more recommended for the diagnosing of Noonan syndrome . Noonan syndrome is a rare genetic disorder and is seen in 1 out of about 2500 live births .
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