Abstract
Проанализирована клиническая картина у 196 пациентов с врожденными пороками развития (ВПР) головного мозга. Пациенты были обследованы с использованием методов нейровизуализации, цитогенетических и молекулярно-генетических методов. Проведен анализ спектра ВПР головного мозга. Самыми частыми ВПР головного мозга являлись аномалии церебральных комиссур, второе место занимали кортикальные мальформации, третье место - аномалии мозжечка. Хромосомная патология (включая микроделеционные синдромы) была выявлена у 19 пациентов (9,7%), моногенные болезни - у 27 пациентов (13,8%). The clinical picture in 196 patients with congenital malformations of the brain was analyzed. Patients were examined using neuroimaging techniques, cytogenetic and molecular genetics techniques. The spectrum of congenital brain defects was analyzed. The most frequent congenital malformations of the brain were abnormalities of cerebral commissures, the second place was occupied by cortical malformations, the third place - abnormalities of the cerebellum. Chromosomal pathology (including microdelection syndromes) was detected in 19 patients (9.7%), monogenic diseases in 27 patients (13.8%).
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