Алгоритм интерпретации клинической значимости хромосомных микродупликаций при недифференцированных формах интеллектуальных расстройств

The identification of chromosomal abnormalities at the submicroscopic level and the establishment of their role in the etiology of intellectual disorders are an important scientific and practical task. Evaluation of the pathogenic value of the less studied type of copy number variation - chromosomal microduplication - is an actual issue. The study proposed an algorithm for interpreting the clinical significance of partial trisomies, which is an integral component in the diagnosis and prevention of chromosomal diseases.