Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review

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No consensus exists regarding the ability to detect the 22q11 deletion syndrome based on clinical assessment. Traditionally, diagnosis depends on clinical referral. Thus, individuals with typical manifestations are easily identified, but when manifestations are atypical or subclinical, diagnosis may be delayed or even missed. The aim of the present literature review was to evaluate the validity of clinical assessment as a method of predicting 22q11.2 deletions in individuals with congenital cardiac malformations.
Original languageEnglish
JournalEuropean Journal of Medical Genetics
Pages (from-to)3-8
Number of pages6
Publication statusPublished - 2011

    Research areas

  • Chromosome Deletion, Chromosomes, Human, Pair 22, Genetic Testing, Heart, Heart Defects, Congenital, Humans, Myocardium, Sensitivity and Specificity

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