The Link Between A Specific Deletion On Chromosome And The Pathogenesis Of Tar Syndrome

713 Words Apr 19th, 2016 3 Pages
Name : Noor Amalina Md Yusof
Nmm5452

Assignment 4

Klopocki et al paper describes the connections between a specific deletion on chromosome and the pathogenesis of TAR syndrome. TAR syndrome is commonly associated with the presence of the hypo-mega-karyocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Apart from that, the TAR syndrome also being closely related to the congenital heart disease. The person that suffers from it also have high tendency on developing intolerance to cow’s milk.
Initially, the evidence of the syndrome follows the pattern of autosomal recessive inheritance. The evidence is drawn from the families with several affected individuals born to unaffected parents. However, few observations suggest other evidence and more complex pattern of inheritance.
In this study, the research utilizes the method of comparative genomic hybridization based on the microarray usage. The study uses 30 patients with TAR syndrome and investigate the common and differential aspects of their genetic composition. Through the study, a common interstitial microdeletion of 200 kb on chromosome 1q21.1 has been discovered which serves as an evidence of correlation to the syndrome. Since it is found on all 30 patients, analysis of the parents was carried out to determine the relation and infer any causation.
From the analysis of the parents, the 25% of the affected individuals show this deletion that occur for the first time in one family member (de…

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