Voinova V Yu, Vorsanova S G, Yurov Yu B, Kolotiy A D, Davidova Yu I, Demidova I A, Novikov P V, Iourov I Yu
Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow.
Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics.
Zh Nevrol Psikhiatr Im S S Korsakova. 2015;115(10):10-16. doi: 10.17116/jnevro201511510110-16.
Microduplications of the long arm of the X chromosome including the MECP2 gene are relatively common causes of neurodevelopmental disorders in males. Authors analyzed clinical presentations of this disease in children.
Authors performed a clinical and genetic analysis of four cases using contemporary cytogenetic, molecular cytogenetic studies (FISH, array CGH) and X chromosome inactivation analysis.
We described somatic, neurologic and mental symptoms of the patients. The genetic imbalance impact on the patients' phenotype, necessity of comprehensive family studies for correct genetic diagnosis and effective genetic counseling in cases of microduplications of the long arm of the X chromosome including the MECP2 gene are discussed.
X染色体长臂包括MECP2基因的微重复是男性神经发育障碍相对常见的病因。作者分析了儿童该疾病的临床表现。
作者采用当代细胞遗传学、分子细胞遗传学研究（荧光原位杂交、比较基因组杂交芯片）及X染色体失活分析对4例病例进行了临床和遗传学分析。
我们描述了患者的躯体、神经和精神症状。讨论了遗传失衡对患者表型的影响、进行全面家系研究以正确进行基因诊断的必要性以及在X染色体长臂包括MECP2基因微重复病例中进行有效遗传咨询的问题。
