АЛГОРИТМ РАННЕЙ ДИАГНОСТИКИ И ЛЕЧЕНИЯ СИНДРОМА ДЕЛЕЦИИ ХРОМОСОМЫ 22 (22q11.2)

L. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, K. V. Savostyanov, A. A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan
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Abstract

Chromosomal diseases, in particular microdeletions, determine the child's condition as well as the prognosis for a disease even at birth. With timely identified chromosomal abnormalities, we can diagnose not only obvious but also hidden disorders in the organs and their systems and timely correct the child's treatment at an early age. The algorithm for diagnosis of chromosomal abnormalities in children is an important component of a modern pediatric practice. It allows to increase the effectiveness of chromosomal pathology treatment.
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染色体分裂综合征22 (22q11.2)的早期诊断和治疗算法
染色体疾病,特别是微缺失,甚至在出生时就决定了儿童的状况以及疾病的预后。及时发现染色体异常,不仅可以诊断出器官及其系统的显性疾病,也可以诊断出隐性疾病,并在儿童早期及时纠正治疗。诊断儿童染色体异常的算法是现代儿科实践的重要组成部分。它可以提高染色体病理治疗的有效性。
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