Alka Anilkumar1, D. M. Vasudevan2, Mahesh Kappanayil3, K. R. Sundaram4, R. Krishna Kumar3, Sheela Nampoothiri5
Congenital Heart Disease, Vol.13, No.3, pp. 483-487, 2018, DOI:10.1111/chd.12600
Abstract Background and Objectives: The 22q11 deletion syndrome is associated with a wide spectrum of
phenotypic features, hence clinical diagnosis is difficult. Individuals with this syndrome are found
to have a risk of developing transfusion associated graft-versus-host reaction, if they are given
nonirradiated blood. Our aim was to elucidate whether chromosome 22q11 deletion in children
with syndromic conotruncal heart defects is associated with platelet abnormality.
Materials and Methods: The genetic analysis was performed by standard cytogenetic and Fluorescence in situ hybridization technique. The platelet parameters in 39 patients with chromosome
22q11 deletion were compared with 154 cases without deletion.
Results:… More >
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